Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166198671T>CCA537508627SCN1A-AS1,SCN9Ac.*1A>G (n.*1A>G)
c.5812A>G (n.5812A>G)
n.2345A>G
n.432-968T>C
 dbSNP gnomAD v2 gnomAD v4
2g.166198671T=CA1304929070SCN1A-AS1,SCN9Ac.*1A= (n.*1A=)
c.5812A= (n.5812A=)
n.2345A=
n.432-968T=
2g.166198672C>ACA349050801SCN1A-AS1,SCN9Ac.5967G>T (p.Ter1989Tyr)
c.5811G>T (p.Ter1937Tyr)
c.5934G>T (p.Ter1978Tyr)
n.2344G>T
n.432-967C>A
c.5580G>T (p.Ter1860Tyr)
c.5223G>T (p.Ter1741Tyr)
2g.166198672C=CA1304929071SCN1A-AS1,SCN9Ac.5967G= (p.Ter1989=)
c.5811G= (p.Ter1937=)
c.5934G= (p.Ter1978=)
n.2344G=
n.432-967C=
c.5580G= (p.Ter1860=)
c.5223G= (p.Ter1741=)
2g.166198672C>GCA349050803SCN1A-AS1,SCN9Ac.5967G>C (p.Ter1989Tyr)
c.5811G>C (p.Ter1937Tyr)
c.5934G>C (p.Ter1978Tyr)
n.2344G>C
n.432-967C>G
c.5580G>C (p.Ter1860Tyr)
c.5223G>C (p.Ter1741Tyr)
 COSMIC COSMIC
2g.166198672C>TCA429977342SCN1A-AS1,SCN9Ac.5967G>A (p.Ter1989=)
c.5811G>A (p.Ter1937=)
c.5934G>A (p.Ter1978=)
n.2344G>A
n.432-967C>T
c.5580G>A (p.Ter1860=)
c.5223G>A (p.Ter1741=)
 dbSNP
2g.166198673T>ACA349050804SCN1A-AS1,SCN9Ac.5966A>T (p.Ter1989Leu)
c.5810A>T (p.Ter1937Leu)
c.5933A>T (p.Ter1978Leu)
n.2343A>T
n.432-966T>A
c.5579A>T (p.Ter1860Leu)
c.5222A>T (p.Ter1741Leu)
2g.166198673T>CCA349050818SCN1A-AS1,SCN9Ac.5966A>G (p.Ter1989Trp)
c.5810A>G (p.Ter1937Trp)
c.5933A>G (p.Ter1978Trp)
n.2343A>G
n.432-966T>C
c.5579A>G (p.Ter1860Trp)
c.5222A>G (p.Ter1741Trp)
2g.166198673T>GCA349050815SCN1A-AS1,SCN9Ac.5966A>C (p.Ter1989Ser)
c.5810A>C (p.Ter1937Ser)
c.5933A>C (p.Ter1978Ser)
n.2343A>C
n.432-966T>G
c.5579A>C (p.Ter1860Ser)
c.5222A>C (p.Ter1741Ser)
2g.166198674A>CCA349050822SCN1A-AS1,SCN9Ac.5965T>G (p.Ter1989Glu)
c.5809T>G (p.Ter1937Glu)
c.5932T>G (p.Ter1978Glu)
n.2342T>G
n.432-965A>C
c.5578T>G (p.Ter1860Glu)
c.5221T>G (p.Ter1741Glu)
2g.166198674A>GCA349050824SCN1A-AS1,SCN9Ac.5965T>C (p.Ter1989Gln)
c.5809T>C (p.Ter1937Gln)
c.5932T>C (p.Ter1978Gln)
n.2342T>C
n.432-965A>G
c.5578T>C (p.Ter1860Gln)
c.5221T>C (p.Ter1741Gln)
2g.166198674A>TCA349050826SCN1A-AS1,SCN9Ac.5965T>A (p.Ter1989Lys)
c.5809T>A (p.Ter1937Lys)
c.5932T>A (p.Ter1978Lys)
n.2342T>A
n.432-965A>T
c.5578T>A (p.Ter1860Lys)
c.5221T>A (p.Ter1741Lys)
2g.166198674_166198675delinsATCA1304929072SCN1A-AS1,SCN9Ac.5964_5965delinsAT (p.Lys1988=)
c.5808_5809delinsAT (p.Lys1936=)
c.5931_5932delinsAT (p.Lys1977=)
n.2341_2342delinsAT
n.432-965_432-964delinsAT
c.5577_5578delinsAT (p.Lys1859=)
c.5220_5221delinsAT (p.Lys1740=)
2g.166198675T>ACA349050832SCN1A-AS1,SCN9Ac.5964A>T (p.Lys1988Asn)
c.5808A>T (p.Lys1936Asn)
c.5931A>T (p.Lys1977Asn)
n.2341A>T
n.432-964T>A
c.5577A>T (p.Lys1859Asn)
c.5220A>T (p.Lys1740Asn)
2g.166198675T>CCA429977351SCN1A-AS1,SCN9Ac.5964A>G (p.Lys1988=)
c.5808A>G (p.Lys1936=)
c.5931A>G (p.Lys1977=)
n.2341A>G
n.432-964T>C
c.5577A>G (p.Lys1859=)
c.5220A>G (p.Lys1740=)
2g.166198675T>GCA1943588SCN1A-AS1,SCN9Ac.5964A>C (p.Lys1988Asn)
c.5808A>C (p.Lys1936Asn)
c.5931A>C (p.Lys1977Asn)
n.2341A>C
n.432-964T>G
c.5577A>C (p.Lys1859Asn)
c.5220A>C (p.Lys1740Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198675T=CA1304929073SCN1A-AS1,SCN9Ac.5964A= (p.Lys1988=)
c.5808A= (p.Lys1936=)
c.5931A= (p.Lys1977=)
n.2341A=
n.432-964T=
c.5577A= (p.Lys1859=)
c.5220A= (p.Lys1740=)
2g.166198680dupCA645537217SCN1A-AS1,SCN9Ac.5964dup (p.Ter1989IleextTer6)
c.5964dup (p.Ter1989IleextTer?)
c.5808dup (p.Ter1937IleextTer6)
c.5931dup (p.Ter1978IleextTer6)
n.2341dup
n.432-959dup
c.5577dup (p.Ter1860IleextTer6)
c.5220dup (p.Ter1741IleextTer6)
 ClinVar COSMIC COSMIC
2g.166198680delCA645537216SCN1A-AS1,SCN9Ac.5964del (p.Lys1988AsnfsTer20)
c.5964del (p.Lys1988AsnfsTer?)
c.5808del (p.Lys1936AsnfsTer20)
c.5931del (p.Lys1977AsnfsTer20)
n.2341del
n.432-959del
c.5577del (p.Lys1859AsnfsTer20)
c.5220del (p.Lys1740AsnfsTer20)
 ClinVar dbSNP COSMIC COSMIC
2g.166198676T>ACA349050834SCN1A-AS1,SCN9Ac.5963A>T (p.Lys1988Ile)
c.5807A>T (p.Lys1936Ile)
c.5930A>T (p.Lys1977Ile)
n.2340A>T
n.432-963T>A
c.5576A>T (p.Lys1859Ile)
c.5219A>T (p.Lys1740Ile)
 ClinVar dbSNP
2g.166198676T>CCA1943589SCN1A-AS1,SCN9Ac.5963A>G (p.Lys1988Arg)
c.5807A>G (p.Lys1936Arg)
c.5930A>G (p.Lys1977Arg)
n.2340A>G
n.432-963T>C
c.5576A>G (p.Lys1859Arg)
c.5219A>G (p.Lys1740Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198676T>GCA349050836SCN1A-AS1,SCN9Ac.5963A>C (p.Lys1988Thr)
c.5807A>C (p.Lys1936Thr)
c.5930A>C (p.Lys1977Thr)
n.2340A>C
n.432-963T>G
c.5576A>C (p.Lys1859Thr)
c.5219A>C (p.Lys1740Thr)
 ClinVar gnomAD v4
2g.166198676T=CA1304929074SCN1A-AS1,SCN9Ac.5963A= (p.Lys1988=)
c.5807A= (p.Lys1936=)
c.5930A= (p.Lys1977=)
n.2340A=
n.432-963T=
c.5576A= (p.Lys1859=)
c.5219A= (p.Lys1740=)
2g.166198677T>ACA349050839SCN1A-AS1,SCN9Ac.5962A>T (p.Lys1988Ter)
c.5806A>T (p.Lys1936Ter)
c.5929A>T (p.Lys1977Ter)
n.2339A>T
n.432-962T>A
c.5575A>T (p.Lys1859Ter)
c.5218A>T (p.Lys1740Ter)
 dbSNP
2g.166198677T>CCA349050840SCN1A-AS1,SCN9Ac.5962A>G (p.Lys1988Glu)
c.5806A>G (p.Lys1936Glu)
c.5929A>G (p.Lys1977Glu)
n.2339A>G
n.432-962T>C
c.5575A>G (p.Lys1859Glu)
c.5218A>G (p.Lys1740Glu)
2g.166198677T>GCA349050843SCN1A-AS1,SCN9Ac.5962A>C (p.Lys1988Gln)
c.5806A>C (p.Lys1936Gln)
c.5929A>C (p.Lys1977Gln)
n.2339A>C
n.432-962T>G
c.5575A>C (p.Lys1859Gln)
c.5218A>C (p.Lys1740Gln)
2g.166198677T=CA1304929075SCN1A-AS1,SCN9Ac.5962A= (p.Lys1988=)
c.5806A= (p.Lys1936=)
c.5929A= (p.Lys1977=)
n.2339A=
n.432-962T=
c.5575A= (p.Lys1859=)
c.5218A= (p.Lys1740=)
2g.166198678T>ACA349050846SCN1A-AS1,SCN9Ac.5961A>T (p.Lys1987Asn)
c.5805A>T (p.Lys1935Asn)
c.5928A>T (p.Lys1976Asn)
n.2338A>T
n.432-961T>A
c.5574A>T (p.Lys1858Asn)
c.5217A>T (p.Lys1739Asn)
2g.166198678T>CCA429977357SCN1A-AS1,SCN9Ac.5961A>G (p.Lys1987=)
c.5805A>G (p.Lys1935=)
c.5928A>G (p.Lys1976=)
n.2338A>G
n.432-961T>C
c.5574A>G (p.Lys1858=)
c.5217A>G (p.Lys1739=)
2g.166198678T>GCA349050849SCN1A-AS1,SCN9Ac.5961A>C (p.Lys1987Asn)
c.5805A>C (p.Lys1935Asn)
c.5928A>C (p.Lys1976Asn)
n.2338A>C
n.432-961T>G
c.5574A>C (p.Lys1858Asn)
c.5217A>C (p.Lys1739Asn)
2g.166198679T>ACA349050851SCN1A-AS1,SCN9Ac.5960A>T (p.Lys1987Ile)
c.5804A>T (p.Lys1935Ile)
c.5927A>T (p.Lys1976Ile)
n.2337A>T
n.432-960T>A
c.5573A>T (p.Lys1858Ile)
c.5216A>T (p.Lys1739Ile)
2g.166198679T>CCA349050852SCN1A-AS1,SCN9Ac.5960A>G (p.Lys1987Arg)
c.5804A>G (p.Lys1935Arg)
c.5927A>G (p.Lys1976Arg)
n.2337A>G
n.432-960T>C
c.5573A>G (p.Lys1858Arg)
c.5216A>G (p.Lys1739Arg)
2g.166198679T>GCA349050854SCN1A-AS1,SCN9Ac.5960A>C (p.Lys1987Thr)
c.5804A>C (p.Lys1935Thr)
c.5927A>C (p.Lys1976Thr)
n.2337A>C
n.432-960T>G
c.5573A>C (p.Lys1858Thr)
c.5216A>C (p.Lys1739Thr)
 COSMIC COSMIC
2g.166198680T>ACA349050858SCN1A-AS1,SCN9Ac.5959A>T (p.Lys1987Ter)
c.5803A>T (p.Lys1935Ter)
c.5926A>T (p.Lys1976Ter)
n.2336A>T
n.432-959T>A
c.5572A>T (p.Lys1858Ter)
c.5215A>T (p.Lys1739Ter)
 dbSNP
2g.166198680T>CCA349050863SCN1A-AS1,SCN9Ac.5959A>G (p.Lys1987Glu)
c.5803A>G (p.Lys1935Glu)
c.5926A>G (p.Lys1976Glu)
n.2336A>G
n.432-959T>C
c.5572A>G (p.Lys1858Glu)
c.5215A>G (p.Lys1739Glu)
2g.166198680T>GCA349050866SCN1A-AS1,SCN9Ac.5959A>C (p.Lys1987Gln)
c.5803A>C (p.Lys1935Gln)
c.5926A>C (p.Lys1976Gln)
n.2336A>C
n.432-959T>G
c.5572A>C (p.Lys1858Gln)
c.5215A>C (p.Lys1739Gln)
2g.166198680T=CA1304929076SCN1A-AS1,SCN9Ac.5959A= (p.Lys1987=)
c.5803A= (p.Lys1935=)
c.5926A= (p.Lys1976=)
n.2336A=
n.432-959T=
c.5572A= (p.Lys1858=)
c.5215A= (p.Lys1739=)
2g.166198681G>ACA429977365SCN1A-AS1,SCN9Ac.5958C>T (p.Ser1986=)
c.5802C>T (p.Ser1934=)
c.5925C>T (p.Ser1975=)
n.2335C>T
n.432-958G>A
c.5571C>T (p.Ser1857=)
c.5214C>T (p.Ser1738=)
2g.166198681G>CCA349050868SCN1A-AS1,SCN9Ac.5958C>G (p.Ser1986Arg)
c.5802C>G (p.Ser1934Arg)
c.5925C>G (p.Ser1975Arg)
n.2335C>G
n.432-958G>C
c.5571C>G (p.Ser1857Arg)
c.5214C>G (p.Ser1738Arg)
2g.166198681G=CA1304929077SCN1A-AS1,SCN9Ac.5958C= (p.Ser1986=)
c.5802C= (p.Ser1934=)
c.5925C= (p.Ser1975=)
n.2335C=
n.432-958G=
c.5571C= (p.Ser1857=)
c.5214C= (p.Ser1738=)
2g.166198681G>TCA349050871SCN1A-AS1,SCN9Ac.5958C>A (p.Ser1986Arg)
c.5802C>A (p.Ser1934Arg)
c.5925C>A (p.Ser1975Arg)
n.2335C>A
n.432-958G>T
c.5571C>A (p.Ser1857Arg)
c.5214C>A (p.Ser1738Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198681_166198682delCA2661764167SCN1A-AS1,SCN9Ac.5957_5958del (p.Ser1986LysfsTer8)
c.5957_5958del (p.Ser1986LysfsTer?)
c.5801_5802del (p.Ser1934LysfsTer8)
c.5924_5925del (p.Ser1975LysfsTer8)
n.2334_2335del
n.432-958_432-957del
c.5570_5571del (p.Ser1857LysfsTer8)
c.5213_5214del (p.Ser1738LysfsTer8)
 gnomAD v4
2g.166198682C>ACA349050874SCN1A-AS1,SCN9Ac.5957G>T (p.Ser1986Ile)
c.5801G>T (p.Ser1934Ile)
c.5924G>T (p.Ser1975Ile)
n.2334G>T
n.432-957C>A
c.5570G>T (p.Ser1857Ile)
c.5213G>T (p.Ser1738Ile)
2g.166198682C=CA1304929078SCN1A-AS1,SCN9Ac.5957G= (p.Ser1986=)
c.5801G= (p.Ser1934=)
c.5924G= (p.Ser1975=)
n.2334G=
n.432-957C=
c.5570G= (p.Ser1857=)
c.5213G= (p.Ser1738=)
2g.166198682C>GCA349050881SCN1A-AS1,SCN9Ac.5957G>C (p.Ser1986Thr)
c.5801G>C (p.Ser1934Thr)
c.5924G>C (p.Ser1975Thr)
n.2334G>C
n.432-957C>G
c.5570G>C (p.Ser1857Thr)
c.5213G>C (p.Ser1738Thr)
2g.166198682C>TCA349050884SCN1A-AS1,SCN9Ac.5957G>A (p.Ser1986Asn)
c.5801G>A (p.Ser1934Asn)
c.5924G>A (p.Ser1975Asn)
n.2334G>A
n.432-957C>T
c.5570G>A (p.Ser1857Asn)
c.5213G>A (p.Ser1738Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198683T>ACA349050886SCN1A-AS1,SCN9Ac.5956A>T (p.Ser1986Cys)
c.5800A>T (p.Ser1934Cys)
c.5923A>T (p.Ser1975Cys)
n.2333A>T
n.432-956T>A
c.5569A>T (p.Ser1857Cys)
c.5212A>T (p.Ser1738Cys)
2g.166198683T>CCA1943590SCN1A-AS1,SCN9Ac.5956A>G (p.Ser1986Gly)
c.5800A>G (p.Ser1934Gly)
c.5923A>G (p.Ser1975Gly)
n.2333A>G
n.432-956T>C
c.5569A>G (p.Ser1857Gly)
c.5212A>G (p.Ser1738Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198683T>GCA349050892SCN1A-AS1,SCN9Ac.5956A>C (p.Ser1986Arg)
c.5800A>C (p.Ser1934Arg)
c.5923A>C (p.Ser1975Arg)
n.2333A>C
n.432-956T>G
c.5569A>C (p.Ser1857Arg)
c.5212A>C (p.Ser1738Arg)
2g.166198683T=CA1304929079SCN1A-AS1,SCN9Ac.5956A= (p.Ser1986=)
c.5800A= (p.Ser1934=)
c.5923A= (p.Ser1975=)
n.2333A=
n.432-956T=
c.5569A= (p.Ser1857=)
c.5212A= (p.Ser1738=)
2g.166198684T>ACA349050895SCN1A-AS1,SCN9Ac.5955A>T (p.Glu1985Asp)
c.5799A>T (p.Glu1933Asp)
c.5922A>T (p.Glu1974Asp)
n.2332A>T
n.432-955T>A
c.5568A>T (p.Glu1856Asp)
c.5211A>T (p.Glu1737Asp)
2g.166198684T>CCA429977373SCN1A-AS1,SCN9Ac.5955A>G (p.Glu1985=)
c.5799A>G (p.Glu1933=)
c.5922A>G (p.Glu1974=)
n.2332A>G
n.432-955T>C
c.5568A>G (p.Glu1856=)
c.5211A>G (p.Glu1737=)
2g.166198684T>GCA349050898SCN1A-AS1,SCN9Ac.5955A>C (p.Glu1985Asp)
c.5799A>C (p.Glu1933Asp)
c.5922A>C (p.Glu1974Asp)
n.2332A>C
n.432-955T>G
c.5568A>C (p.Glu1856Asp)
c.5211A>C (p.Glu1737Asp)
 gnomAD v4
2g.166198685T>ACA349050901SCN1A-AS1,SCN9Ac.5954A>T (p.Glu1985Val)
c.5798A>T (p.Glu1933Val)
c.5921A>T (p.Glu1974Val)
n.2331A>T
n.432-954T>A
c.5567A>T (p.Glu1856Val)
c.5210A>T (p.Glu1737Val)
2g.166198685T>CCA1943591SCN1A-AS1,SCN9Ac.5954A>G (p.Glu1985Gly)
c.5798A>G (p.Glu1933Gly)
c.5921A>G (p.Glu1974Gly)
n.2331A>G
n.432-954T>C
c.5567A>G (p.Glu1856Gly)
c.5210A>G (p.Glu1737Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198685T>GCA349050906SCN1A-AS1,SCN9Ac.5954A>C (p.Glu1985Ala)
c.5798A>C (p.Glu1933Ala)
c.5921A>C (p.Glu1974Ala)
n.2331A>C
n.432-954T>G
c.5567A>C (p.Glu1856Ala)
c.5210A>C (p.Glu1737Ala)
2g.166198685T=CA1304929080SCN1A-AS1,SCN9Ac.5954A= (p.Glu1985=)
c.5798A= (p.Glu1933=)
c.5921A= (p.Glu1974=)
n.2331A=
n.432-954T=
c.5567A= (p.Glu1856=)
c.5210A= (p.Glu1737=)
2g.166198686C>ACA349050908SCN1A-AS1,SCN9Ac.5953G>T (p.Glu1985Ter)
c.5797G>T (p.Glu1933Ter)
c.5920G>T (p.Glu1974Ter)
n.2330G>T
n.432-953C>A
c.5566G>T (p.Glu1856Ter)
c.5209G>T (p.Glu1737Ter)
 dbSNP
2g.166198686C=CA1304929081SCN1A-AS1,SCN9Ac.5953G= (p.Glu1985=)
c.5797G= (p.Glu1933=)
c.5920G= (p.Glu1974=)
n.2330G=
n.432-953C=
c.5566G= (p.Glu1856=)
c.5209G= (p.Glu1737=)
2g.166198686C>GCA349050910SCN1A-AS1,SCN9Ac.5953G>C (p.Glu1985Gln)
c.5797G>C (p.Glu1933Gln)
c.5920G>C (p.Glu1974Gln)
n.2330G>C
n.432-953C>G
c.5566G>C (p.Glu1856Gln)
c.5209G>C (p.Glu1737Gln)
2g.166198686C>TCA1943592SCN1A-AS1,SCN9Ac.5953G>A (p.Glu1985Lys)
c.5797G>A (p.Glu1933Lys)
c.5920G>A (p.Glu1974Lys)
n.2330G>A
n.432-953C>T
c.5566G>A (p.Glu1856Lys)
c.5209G>A (p.Glu1737Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198686_166198687delCA2661764168SCN1A-AS1,SCN9Ac.5952_5953del (p.Glu1985LysfsTer9)
c.5952_5953del (p.Glu1985LysfsTer?)
c.5796_5797del (p.Glu1933LysfsTer9)
c.5919_5920del (p.Glu1974LysfsTer9)
n.2329_2330del
n.432-953_432-952del
c.5565_5566del (p.Glu1856LysfsTer9)
c.5208_5209del (p.Glu1737LysfsTer9)
 gnomAD v4
2g.166198687C>ACA349050912SCN1A-AS1,SCN9Ac.5952G>T (p.Lys1984Asn)
c.5796G>T (p.Lys1932Asn)
c.5919G>T (p.Lys1973Asn)
n.2329G>T
n.432-952C>A
c.5565G>T (p.Lys1855Asn)
c.5208G>T (p.Lys1736Asn)
2g.166198687C=CA1304929082SCN1A-AS1,SCN9Ac.5952G= (p.Lys1984=)
c.5796G= (p.Lys1932=)
c.5919G= (p.Lys1973=)
n.2329G=
n.432-952C=
c.5565G= (p.Lys1855=)
c.5208G= (p.Lys1736=)
2g.166198687C>GCA349050914SCN1A-AS1,SCN9Ac.5952G>C (p.Lys1984Asn)
c.5796G>C (p.Lys1932Asn)
c.5919G>C (p.Lys1973Asn)
n.2329G>C
n.432-952C>G
c.5565G>C (p.Lys1855Asn)
c.5208G>C (p.Lys1736Asn)
2g.166198687C>TCA429977389SCN1A-AS1,SCN9Ac.5952G>A (p.Lys1984=)
c.5796G>A (p.Lys1932=)
c.5919G>A (p.Lys1973=)
n.2329G>A
n.432-952C>T
c.5565G>A (p.Lys1855=)
c.5208G>A (p.Lys1736=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198688T>ACA349050917SCN1A-AS1,SCN9Ac.5951A>T (p.Lys1984Met)
c.5795A>T (p.Lys1932Met)
c.5918A>T (p.Lys1973Met)
n.2328A>T
n.432-951T>A
c.5564A>T (p.Lys1855Met)
c.5207A>T (p.Lys1736Met)
2g.166198688T>CCA349050918SCN1A-AS1,SCN9Ac.5951A>G (p.Lys1984Arg)
c.5795A>G (p.Lys1932Arg)
c.5918A>G (p.Lys1973Arg)
n.2328A>G
n.432-951T>C
c.5564A>G (p.Lys1855Arg)
c.5207A>G (p.Lys1736Arg)
2g.166198688T>GCA349050920SCN1A-AS1,SCN9Ac.5951A>C (p.Lys1984Thr)
c.5795A>C (p.Lys1932Thr)
c.5918A>C (p.Lys1973Thr)
n.2328A>C
n.432-951T>G
c.5564A>C (p.Lys1855Thr)
c.5207A>C (p.Lys1736Thr)
2g.166198689T>ACA349050926SCN1A-AS1,SCN9Ac.5950A>T (p.Lys1984Ter)
c.5794A>T (p.Lys1932Ter)
c.5917A>T (p.Lys1973Ter)
n.2327A>T
n.432-950T>A
c.5563A>T (p.Lys1855Ter)
c.5206A>T (p.Lys1736Ter)
2g.166198689T>CCA349050925SCN1A-AS1,SCN9Ac.5950A>G (p.Lys1984Glu)
c.5794A>G (p.Lys1932Glu)
c.5917A>G (p.Lys1973Glu)
n.2327A>G
n.432-950T>C
c.5563A>G (p.Lys1855Glu)
c.5206A>G (p.Lys1736Glu)
2g.166198689T>GCA349050924SCN1A-AS1,SCN9Ac.5950A>C (p.Lys1984Gln)
c.5794A>C (p.Lys1932Gln)
c.5917A>C (p.Lys1973Gln)
n.2327A>C
n.432-950T>G
c.5563A>C (p.Lys1855Gln)
c.5206A>C (p.Lys1736Gln)
2g.166198690G>ACA429977400SCN1A-AS1,SCN9Ac.5949C>T (p.Ser1983=)
c.5793C>T (p.Ser1931=)
c.5916C>T (p.Ser1972=)
n.2326C>T
n.432-949G>A
c.5562C>T (p.Ser1854=)
c.5205C>T (p.Ser1735=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166198690G>CCA1943593SCN1A-AS1,SCN9Ac.5949C>G (p.Ser1983Arg)
c.5793C>G (p.Ser1931Arg)
c.5916C>G (p.Ser1972Arg)
n.2326C>G
n.432-949G>C
c.5562C>G (p.Ser1854Arg)
c.5205C>G (p.Ser1735Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198690G=CA1304929083SCN1A-AS1,SCN9Ac.5949C= (p.Ser1983=)
c.5793C= (p.Ser1931=)
c.5916C= (p.Ser1972=)
n.2326C=
n.432-949G=
c.5562C= (p.Ser1854=)
c.5205C= (p.Ser1735=)
2g.166198690G>TCA349050929SCN1A-AS1,SCN9Ac.5949C>A (p.Ser1983Arg)
c.5793C>A (p.Ser1931Arg)
c.5916C>A (p.Ser1972Arg)
n.2326C>A
n.432-949G>T
c.5562C>A (p.Ser1854Arg)
c.5205C>A (p.Ser1735Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198691C>ACA1943594SCN1A-AS1,SCN9Ac.5948G>T (p.Ser1983Ile)
c.5792G>T (p.Ser1931Ile)
c.5915G>T (p.Ser1972Ile)
n.2325G>T
n.432-948C>A
c.5561G>T (p.Ser1854Ile)
c.5204G>T (p.Ser1735Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198691C=CA1304929084SCN1A-AS1,SCN9Ac.5948G= (p.Ser1983=)
c.5792G= (p.Ser1931=)
c.5915G= (p.Ser1972=)
n.2325G=
n.432-948C=
c.5561G= (p.Ser1854=)
c.5204G= (p.Ser1735=)
2g.166198691C>GCA349050934SCN1A-AS1,SCN9Ac.5948G>C (p.Ser1983Thr)
c.5792G>C (p.Ser1931Thr)
c.5915G>C (p.Ser1972Thr)
n.2325G>C
n.432-948C>G
c.5561G>C (p.Ser1854Thr)
c.5204G>C (p.Ser1735Thr)
2g.166198691C>TCA349050932SCN1A-AS1,SCN9Ac.5948G>A (p.Ser1983Asn)
c.5792G>A (p.Ser1931Asn)
c.5915G>A (p.Ser1972Asn)
n.2325G>A
n.432-948C>T
c.5561G>A (p.Ser1854Asn)
c.5204G>A (p.Ser1735Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.166198691_166198693delinsCTGCA1304929085SCN1A-AS1,SCN9Ac.5946_5948delinsCAG (p.Asp1982=)
c.5790_5792delinsCAG (p.Asp1930=)
c.5913_5915delinsCAG (p.Asp1971=)
n.2323_2325delinsCAG
n.432-948_432-946delinsCTG
c.5559_5561delinsCAG (p.Asp1853=)
c.5202_5204delinsCAG (p.Asp1734=)
2g.166198692T>ACA349050936SCN1A-AS1,SCN9Ac.5947A>T (p.Ser1983Cys)
c.5791A>T (p.Ser1931Cys)
c.5914A>T (p.Ser1972Cys)
n.2324A>T
n.432-947T>A
c.5560A>T (p.Ser1854Cys)
c.5203A>T (p.Ser1735Cys)
2g.166198692T>CCA349050939SCN1A-AS1,SCN9Ac.5947A>G (p.Ser1983Gly)
c.5791A>G (p.Ser1931Gly)
c.5914A>G (p.Ser1972Gly)
n.2324A>G
n.432-947T>C
c.5560A>G (p.Ser1854Gly)
c.5203A>G (p.Ser1735Gly)
2g.166198692T>GCA349050937SCN1A-AS1,SCN9Ac.5947A>C (p.Ser1983Arg)
c.5791A>C (p.Ser1931Arg)
c.5914A>C (p.Ser1972Arg)
n.2324A>C
n.432-947T>G
c.5560A>C (p.Ser1854Arg)
c.5203A>C (p.Ser1735Arg)
2g.166198693_166198694delCA537508628SCN1A-AS1,SCN9Ac.5946_5947del (p.Asp1982GlufsTer12)
c.5946_5947del (p.Asp1982GlufsTer?)
c.5790_5791del (p.Asp1930GlufsTer12)
c.5913_5914del (p.Asp1971GlufsTer12)
n.2323_2324del
n.432-946_432-945del
c.5559_5560del (p.Asp1853GlufsTer12)
c.5202_5203del (p.Asp1734GlufsTer12)
 dbSNP gnomAD v2 gnomAD v4
2g.166198693G>ACA59782633SCN1A-AS1,SCN9Ac.5946C>T (p.Asp1982=)
c.5790C>T (p.Asp1930=)
c.5913C>T (p.Asp1971=)
n.2323C>T
n.432-946G>A
c.5559C>T (p.Asp1853=)
c.5202C>T (p.Asp1734=)
 dbSNP gnomAD v2 gnomAD v4
2g.166198693G>CCA1943595SCN1A-AS1,SCN9Ac.5946C>G (p.Asp1982Glu)
c.5790C>G (p.Asp1930Glu)
c.5913C>G (p.Asp1971Glu)
n.2323C>G
n.432-946G>C
c.5559C>G (p.Asp1853Glu)
c.5202C>G (p.Asp1734Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198693G=CA1304929086SCN1A-AS1,SCN9Ac.5946C= (p.Asp1982=)
c.5790C= (p.Asp1930=)
c.5913C= (p.Asp1971=)
n.2323C=
n.432-946G=
c.5559C= (p.Asp1853=)
c.5202C= (p.Asp1734=)
2g.166198693G>TCA349050943SCN1A-AS1,SCN9Ac.5946C>A (p.Asp1982Glu)
c.5790C>A (p.Asp1930Glu)
c.5913C>A (p.Asp1971Glu)
n.2323C>A
n.432-946G>T
c.5559C>A (p.Asp1853Glu)
c.5202C>A (p.Asp1734Glu)
 gnomAD v4
2g.166198694T>ACA1943596SCN1A-AS1,SCN9Ac.5945A>T (p.Asp1982Val)
c.5789A>T (p.Asp1930Val)
c.5912A>T (p.Asp1971Val)
n.2322A>T
n.432-945T>A
c.5558A>T (p.Asp1853Val)
c.5201A>T (p.Asp1734Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198694T>CCA349050946SCN1A-AS1,SCN9Ac.5945A>G (p.Asp1982Gly)
c.5789A>G (p.Asp1930Gly)
c.5912A>G (p.Asp1971Gly)
n.2322A>G
n.432-945T>C
c.5558A>G (p.Asp1853Gly)
c.5201A>G (p.Asp1734Gly)
2g.166198694T>GCA349050948SCN1A-AS1,SCN9Ac.5945A>C (p.Asp1982Ala)
c.5789A>C (p.Asp1930Ala)
c.5912A>C (p.Asp1971Ala)
n.2322A>C
n.432-945T>G
c.5558A>C (p.Asp1853Ala)
c.5201A>C (p.Asp1734Ala)
2g.166198694T=CA1304929087SCN1A-AS1,SCN9Ac.5945A= (p.Asp1982=)
c.5789A= (p.Asp1930=)
c.5912A= (p.Asp1971=)
n.2322A=
n.432-945T=
c.5558A= (p.Asp1853=)
c.5201A= (p.Asp1734=)
2g.166198695C>ACA349050950SCN1A-AS1,SCN9Ac.5944G>T (p.Asp1982Tyr)
c.5788G>T (p.Asp1930Tyr)
c.5911G>T (p.Asp1971Tyr)
n.2321G>T
n.432-944C>A
c.5557G>T (p.Asp1853Tyr)
c.5200G>T (p.Asp1734Tyr)
 dbSNP
2g.166198695C>GCA349050952SCN1A-AS1,SCN9Ac.5944G>C (p.Asp1982His)
c.5788G>C (p.Asp1930His)
c.5911G>C (p.Asp1971His)
n.2321G>C
n.432-944C>G
c.5557G>C (p.Asp1853His)
c.5200G>C (p.Asp1734His)
2g.166198695C>TCA349050953SCN1A-AS1,SCN9Ac.5944G>A (p.Asp1982Asn)
c.5788G>A (p.Asp1930Asn)
c.5911G>A (p.Asp1971Asn)
n.2321G>A
n.432-944C>T
c.5557G>A (p.Asp1853Asn)
c.5200G>A (p.Asp1734Asn)
2g.166198696T>ACA349050956SCN1A-AS1,SCN9Ac.5943A>T (p.Lys1981Asn)
c.5787A>T (p.Lys1929Asn)
c.5910A>T (p.Lys1970Asn)
n.2320A>T
n.432-943T>A
c.5556A>T (p.Lys1852Asn)
c.5199A>T (p.Lys1733Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198696T>CCA429977416SCN1A-AS1,SCN9Ac.5943A>G (p.Lys1981=)
c.5787A>G (p.Lys1929=)
c.5910A>G (p.Lys1970=)
n.2320A>G
n.432-943T>C
c.5556A>G (p.Lys1852=)
c.5199A>G (p.Lys1733=)
2g.166198696T>GCA349050958SCN1A-AS1,SCN9Ac.5943A>C (p.Lys1981Asn)
c.5787A>C (p.Lys1929Asn)
c.5910A>C (p.Lys1970Asn)
n.2320A>C
n.432-943T>G
c.5556A>C (p.Lys1852Asn)
c.5199A>C (p.Lys1733Asn)
 gnomAD v4 COSMIC COSMIC
2g.166198697T>ACA349050964SCN1A-AS1,SCN9Ac.5942A>T (p.Lys1981Ile)
c.5786A>T (p.Lys1929Ile)
c.5909A>T (p.Lys1970Ile)
n.2319A>T
n.432-942T>A
c.5555A>T (p.Lys1852Ile)
c.5198A>T (p.Lys1733Ile)
2g.166198697T>CCA349050962SCN1A-AS1,SCN9Ac.5942A>G (p.Lys1981Arg)
c.5786A>G (p.Lys1929Arg)
c.5909A>G (p.Lys1970Arg)
n.2319A>G
n.432-942T>C
c.5555A>G (p.Lys1852Arg)
c.5198A>G (p.Lys1733Arg)
 dbSNP
2g.166198697T>GCA349050960SCN1A-AS1,SCN9Ac.5942A>C (p.Lys1981Thr)
c.5786A>C (p.Lys1929Thr)
c.5909A>C (p.Lys1970Thr)
n.2319A>C
n.432-942T>G
c.5555A>C (p.Lys1852Thr)
c.5198A>C (p.Lys1733Thr)
2g.166198697T=CA1304929088SCN1A-AS1,SCN9Ac.5942A= (p.Lys1981=)
c.5786A= (p.Lys1929=)
c.5909A= (p.Lys1970=)
n.2319A=
n.432-942T=
c.5555A= (p.Lys1852=)
c.5198A= (p.Lys1733=)
2g.166198698T>ACA349050971SCN1A-AS1,SCN9Ac.5941A>T (p.Lys1981Ter)
c.5785A>T (p.Lys1929Ter)
c.5908A>T (p.Lys1970Ter)
n.2318A>T
n.432-941T>A
c.5554A>T (p.Lys1852Ter)
c.5197A>T (p.Lys1733Ter)
 dbSNP
2g.166198698T>CCA349050972SCN1A-AS1,SCN9Ac.5941A>G (p.Lys1981Glu)
c.5785A>G (p.Lys1929Glu)
c.5908A>G (p.Lys1970Glu)
n.2318A>G
n.432-941T>C
c.5554A>G (p.Lys1852Glu)
c.5197A>G (p.Lys1733Glu)
 dbSNP
2g.166198698T>GCA349050975SCN1A-AS1,SCN9Ac.5941A>C (p.Lys1981Gln)
c.5785A>C (p.Lys1929Gln)
c.5908A>C (p.Lys1970Gln)
n.2318A>C
n.432-941T>G
c.5554A>C (p.Lys1852Gln)
c.5197A>C (p.Lys1733Gln)
 gnomAD v4
2g.166198698T=CA1304929089SCN1A-AS1,SCN9Ac.5941A= (p.Lys1981=)
c.5785A= (p.Lys1929=)
c.5908A= (p.Lys1970=)
n.2318A=
n.432-941T=
c.5554A= (p.Lys1852=)
c.5197A= (p.Lys1733=)
2g.166198699C>ACA429977421SCN1A-AS1,SCN9Ac.5940G>T (p.Gly1980=)
c.5784G>T (p.Gly1928=)
c.5907G>T (p.Gly1969=)
n.2317G>T
n.432-940C>A
c.5553G>T (p.Gly1851=)
c.5196G>T (p.Gly1732=)
2g.166198699C>GCA429977422SCN1A-AS1,SCN9Ac.5940G>C (p.Gly1980=)
c.5784G>C (p.Gly1928=)
c.5907G>C (p.Gly1969=)
n.2317G>C
n.432-940C>G
c.5553G>C (p.Gly1851=)
c.5196G>C (p.Gly1732=)
2g.166198699C>TCA429977423SCN1A-AS1,SCN9Ac.5940G>A (p.Gly1980=)
c.5784G>A (p.Gly1928=)
c.5907G>A (p.Gly1969=)
n.2317G>A
n.432-940C>T
c.5553G>A (p.Gly1851=)
c.5196G>A (p.Gly1732=)
2g.166198700C>ACA349050976SCN1A-AS1,SCN9Ac.5939G>T (p.Gly1980Val)
c.5783G>T (p.Gly1928Val)
c.5906G>T (p.Gly1969Val)
n.2316G>T
n.432-939C>A
c.5552G>T (p.Gly1851Val)
c.5195G>T (p.Gly1732Val)
2g.166198700C=CA1304929090SCN1A-AS1,SCN9Ac.5939G= (p.Gly1980=)
c.5783G= (p.Gly1928=)
c.5906G= (p.Gly1969=)
n.2316G=
n.432-939C=
c.5552G= (p.Gly1851=)
c.5195G= (p.Gly1732=)
2g.166198700C>GCA349050977SCN1A-AS1,SCN9Ac.5939G>C (p.Gly1980Ala)
c.5783G>C (p.Gly1928Ala)
c.5906G>C (p.Gly1969Ala)
n.2316G>C
n.432-939C>G
c.5552G>C (p.Gly1851Ala)
c.5195G>C (p.Gly1732Ala)
2g.166198700C>TCA349050979SCN1A-AS1,SCN9Ac.5939G>A (p.Gly1980Glu)
c.5783G>A (p.Gly1928Glu)
c.5906G>A (p.Gly1969Glu)
n.2316G>A
n.432-939C>T
c.5552G>A (p.Gly1851Glu)
c.5195G>A (p.Gly1732Glu)
 ClinVar dbSNP gnomAD v4
2g.166198701C>ACA349050981SCN1A-AS1,SCN9Ac.5938G>T (p.Gly1980Trp)
c.5782G>T (p.Gly1928Trp)
c.5905G>T (p.Gly1969Trp)
n.2315G>T
n.432-938C>A
c.5551G>T (p.Gly1851Trp)
c.5194G>T (p.Gly1732Trp)
2g.166198701C=CA1304929091SCN1A-AS1,SCN9Ac.5938G= (p.Gly1980=)
c.5782G= (p.Gly1928=)
c.5905G= (p.Gly1969=)
n.2315G=
n.432-938C=
c.5551G= (p.Gly1851=)
c.5194G= (p.Gly1732=)
2g.166198701C>GCA349050983SCN1A-AS1,SCN9Ac.5938G>C (p.Gly1980Arg)
c.5782G>C (p.Gly1928Arg)
c.5905G>C (p.Gly1969Arg)
n.2315G>C
n.432-938C>G
c.5551G>C (p.Gly1851Arg)
c.5194G>C (p.Gly1732Arg)
2g.166198701C>TCA349050984SCN1A-AS1,SCN9Ac.5938G>A (p.Gly1980Arg)
c.5782G>A (p.Gly1928Arg)
c.5905G>A (p.Gly1969Arg)
n.2315G>A
n.432-938C>T
c.5551G>A (p.Gly1851Arg)
c.5194G>A (p.Gly1732Arg)
 dbSNP gnomAD v2
2g.166198702T>ACA349050985SCN1A-AS1,SCN9Ac.5937A>T (p.Lys1979Asn)
c.5781A>T (p.Lys1927Asn)
c.5904A>T (p.Lys1968Asn)
n.2314A>T
n.432-937T>A
c.5550A>T (p.Lys1850Asn)
c.5193A>T (p.Lys1731Asn)
 COSMIC COSMIC
2g.166198702T>CCA429977436SCN1A-AS1,SCN9Ac.5937A>G (p.Lys1979=)
c.5781A>G (p.Lys1927=)
c.5904A>G (p.Lys1968=)
n.2314A>G
n.432-937T>C
c.5550A>G (p.Lys1850=)
c.5193A>G (p.Lys1731=)
2g.166198702T>GCA349050986SCN1A-AS1,SCN9Ac.5937A>C (p.Lys1979Asn)
c.5781A>C (p.Lys1927Asn)
c.5904A>C (p.Lys1968Asn)
n.2314A>C
n.432-937T>G
c.5550A>C (p.Lys1850Asn)
c.5193A>C (p.Lys1731Asn)
2g.166198703T>ACA349050992SCN1A-AS1,SCN9Ac.5936A>T (p.Lys1979Ile)
c.5780A>T (p.Lys1927Ile)
c.5903A>T (p.Lys1968Ile)
n.2313A>T
n.432-936T>A
c.5549A>T (p.Lys1850Ile)
c.5192A>T (p.Lys1731Ile)
2g.166198703T>CCA349050990SCN1A-AS1,SCN9Ac.5936A>G (p.Lys1979Arg)
c.5780A>G (p.Lys1927Arg)
c.5903A>G (p.Lys1968Arg)
n.2313A>G
n.432-936T>C
c.5549A>G (p.Lys1850Arg)
c.5192A>G (p.Lys1731Arg)
2g.166198703T>GCA349050989SCN1A-AS1,SCN9Ac.5936A>C (p.Lys1979Thr)
c.5780A>C (p.Lys1927Thr)
c.5903A>C (p.Lys1968Thr)
n.2313A>C
n.432-936T>G
c.5549A>C (p.Lys1850Thr)
c.5192A>C (p.Lys1731Thr)
2g.166198704T>ACA349050994SCN1A-AS1,SCN9Ac.5935A>T (p.Lys1979Ter)
c.5779A>T (p.Lys1927Ter)
c.5902A>T (p.Lys1968Ter)
n.2312A>T
n.432-935T>A
c.5548A>T (p.Lys1850Ter)
c.5191A>T (p.Lys1731Ter)
 dbSNP
2g.166198704T>CCA349050996SCN1A-AS1,SCN9Ac.5935A>G (p.Lys1979Glu)
c.5779A>G (p.Lys1927Glu)
c.5902A>G (p.Lys1968Glu)
n.2312A>G
n.432-935T>C
c.5548A>G (p.Lys1850Glu)
c.5191A>G (p.Lys1731Glu)
2g.166198704T>GCA349050997SCN1A-AS1,SCN9Ac.5935A>C (p.Lys1979Gln)
c.5779A>C (p.Lys1927Gln)
c.5902A>C (p.Lys1968Gln)
n.2312A>C
n.432-935T>G
c.5548A>C (p.Lys1850Gln)
c.5191A>C (p.Lys1731Gln)
2g.166198704T=CA1304929092SCN1A-AS1,SCN9Ac.5935A= (p.Lys1979=)
c.5779A= (p.Lys1927=)
c.5902A= (p.Lys1968=)
n.2312A=
n.432-935T=
c.5548A= (p.Lys1850=)
c.5191A= (p.Lys1731=)
2g.166198705_166198706delCA2528228349SCN1A-AS1,SCN9Ac.5934_5935del (p.Asp1978GlufsTer16)
c.5934_5935del (p.Asp1978GlufsTer?)
c.5778_5779del (p.Asp1926GlufsTer16)
c.5901_5902del (p.Asp1967GlufsTer16)
n.2311_2312del
n.432-934_432-933del
c.5547_5548del (p.Asp1849GlufsTer16)
c.5190_5191del (p.Asp1730GlufsTer16)
2g.166198705G>ACA429977452SCN1A-AS1,SCN9Ac.5934C>T (p.Asp1978=)
c.5778C>T (p.Asp1926=)
c.5901C>T (p.Asp1967=)
n.2311C>T
n.432-934G>A
c.5547C>T (p.Asp1849=)
c.5190C>T (p.Asp1730=)
 gnomAD v4
2g.166198705G>CCA349050999SCN1A-AS1,SCN9Ac.5934C>G (p.Asp1978Glu)
c.5778C>G (p.Asp1926Glu)
c.5901C>G (p.Asp1967Glu)
n.2311C>G
n.432-934G>C
c.5547C>G (p.Asp1849Glu)
c.5190C>G (p.Asp1730Glu)
2g.166198705G>TCA349051000SCN1A-AS1,SCN9Ac.5934C>A (p.Asp1978Glu)
c.5778C>A (p.Asp1926Glu)
c.5901C>A (p.Asp1967Glu)
n.2311C>A
n.432-934G>T
c.5547C>A (p.Asp1849Glu)
c.5190C>A (p.Asp1730Glu)
 gnomAD v4 COSMIC
2g.166198706T>ACA349051001SCN1A-AS1,SCN9Ac.5933A>T (p.Asp1978Val)
c.5777A>T (p.Asp1926Val)
c.5900A>T (p.Asp1967Val)
n.2310A>T
n.432-933T>A
c.5546A>T (p.Asp1849Val)
c.5189A>T (p.Asp1730Val)
2g.166198706T>CCA349051003SCN1A-AS1,SCN9Ac.5933A>G (p.Asp1978Gly)
c.5777A>G (p.Asp1926Gly)
c.5900A>G (p.Asp1967Gly)
n.2310A>G
n.432-933T>C
c.5546A>G (p.Asp1849Gly)
c.5189A>G (p.Asp1730Gly)
2g.166198706T>GCA349051004SCN1A-AS1,SCN9Ac.5933A>C (p.Asp1978Ala)
c.5777A>C (p.Asp1926Ala)
c.5900A>C (p.Asp1967Ala)
n.2310A>C
n.432-933T>G
c.5546A>C (p.Asp1849Ala)
c.5189A>C (p.Asp1730Ala)
2g.166198706_166198710delinsTCTTCCA1304929093SCN1A-AS1,SCN9Ac.5929_5933delinsGAAGA (p.Glu1977=)
c.5773_5777delinsGAAGA (p.Glu1925=)
c.5896_5900delinsGAAGA (p.Glu1966=)
n.2306_2310delinsGAAGA
n.432-933_432-929delinsTCTTC
c.5542_5546delinsGAAGA (p.Glu1848=)
c.5185_5189delinsGAAGA (p.Glu1729=)
2g.166198707C>ACA349051005SCN1A-AS1,SCN9Ac.5932G>T (p.Asp1978Tyr)
c.5776G>T (p.Asp1926Tyr)
c.5899G>T (p.Asp1967Tyr)
n.2309G>T
n.432-932C>A
c.5545G>T (p.Asp1849Tyr)
c.5188G>T (p.Asp1730Tyr)
 COSMIC
2g.166198707C>GCA349051006SCN1A-AS1,SCN9Ac.5932G>C (p.Asp1978His)
c.5776G>C (p.Asp1926His)
c.5899G>C (p.Asp1967His)
n.2309G>C
n.432-932C>G
c.5545G>C (p.Asp1849His)
c.5188G>C (p.Asp1730His)
 COSMIC COSMIC
2g.166198707C>TCA349051008SCN1A-AS1,SCN9Ac.5932G>A (p.Asp1978Asn)
c.5776G>A (p.Asp1926Asn)
c.5899G>A (p.Asp1967Asn)
n.2309G>A
n.432-932C>T
c.5545G>A (p.Asp1849Asn)
c.5188G>A (p.Asp1730Asn)
2g.166198710_166198713delCA537508629SCN1A-AS1,SCN9Ac.5929_5932del (p.Glu1977ThrfsTer30)
c.5929_5932del (p.Glu1977ThrfsTer?)
c.5773_5776del (p.Glu1925ThrfsTer30)
c.5896_5899del (p.Glu1966ThrfsTer30)
n.2306_2309del
n.432-929_432-926del
c.5542_5545del (p.Glu1848ThrfsTer30)
c.5185_5188del (p.Glu1729ThrfsTer30)
 dbSNP gnomAD v2 gnomAD v4
2g.166198708T>ACA349051011SCN1A-AS1,SCN9Ac.5931A>T (p.Glu1977Asp)
c.5775A>T (p.Glu1925Asp)
c.5898A>T (p.Glu1966Asp)
n.2308A>T
n.432-931T>A
c.5544A>T (p.Glu1848Asp)
c.5187A>T (p.Glu1729Asp)
2g.166198708T>CCA429977465SCN1A-AS1,SCN9Ac.5931A>G (p.Glu1977=)
c.5775A>G (p.Glu1925=)
c.5898A>G (p.Glu1966=)
n.2308A>G
n.432-931T>C
c.5544A>G (p.Glu1848=)
c.5187A>G (p.Glu1729=)
 gnomAD v4
2g.166198708T>GCA349051012SCN1A-AS1,SCN9Ac.5931A>C (p.Glu1977Asp)
c.5775A>C (p.Glu1925Asp)
c.5898A>C (p.Glu1966Asp)
n.2308A>C
n.432-931T>G
c.5544A>C (p.Glu1848Asp)
c.5187A>C (p.Glu1729Asp)
2g.166198709T>ACA349051017SCN1A-AS1,SCN9Ac.5930A>T (p.Glu1977Val)
c.5774A>T (p.Glu1925Val)
c.5897A>T (p.Glu1966Val)
n.2307A>T
n.432-930T>A
c.5543A>T (p.Glu1848Val)
c.5186A>T (p.Glu1729Val)
2g.166198709T>CCA349051013SCN1A-AS1,SCN9Ac.5930A>G (p.Glu1977Gly)
c.5774A>G (p.Glu1925Gly)
c.5897A>G (p.Glu1966Gly)
n.2307A>G
n.432-930T>C
c.5543A>G (p.Glu1848Gly)
c.5186A>G (p.Glu1729Gly)
2g.166198709T>GCA349051015SCN1A-AS1,SCN9Ac.5930A>C (p.Glu1977Ala)
c.5774A>C (p.Glu1925Ala)
c.5897A>C (p.Glu1966Ala)
n.2307A>C
n.432-930T>G
c.5543A>C (p.Glu1848Ala)
c.5186A>C (p.Glu1729Ala)
2g.166198710C>ACA349051019SCN1A-AS1,SCN9Ac.5929G>T (p.Glu1977Ter)
c.5773G>T (p.Glu1925Ter)
c.5896G>T (p.Glu1966Ter)
n.2306G>T
n.432-929C>A
c.5542G>T (p.Glu1848Ter)
c.5185G>T (p.Glu1729Ter)
 dbSNP
2g.166198710C=CA1304929094SCN1A-AS1,SCN9Ac.5929G= (p.Glu1977=)
c.5773G= (p.Glu1925=)
c.5896G= (p.Glu1966=)
n.2306G=
n.432-929C=
c.5542G= (p.Glu1848=)
c.5185G= (p.Glu1729=)
2g.166198710C>GCA349051021SCN1A-AS1,SCN9Ac.5929G>C (p.Glu1977Gln)
c.5773G>C (p.Glu1925Gln)
c.5896G>C (p.Glu1966Gln)
n.2306G>C
n.432-929C>G
c.5542G>C (p.Glu1848Gln)
c.5185G>C (p.Glu1729Gln)
2g.166198710C>TCA349051023SCN1A-AS1,SCN9Ac.5929G>A (p.Glu1977Lys)
c.5773G>A (p.Glu1925Lys)
c.5896G>A (p.Glu1966Lys)
n.2306G>A
n.432-929C>T
c.5542G>A (p.Glu1848Lys)
c.5185G>A (p.Glu1729Lys)
 ClinVar dbSNP
2g.166198711C>ACA349051025SCN1A-AS1,SCN9Ac.5928G>T (p.Lys1976Asn)
c.5772G>T (p.Lys1924Asn)
c.5895G>T (p.Lys1965Asn)
n.2305G>T
n.432-928C>A
c.5541G>T (p.Lys1847Asn)
c.5184G>T (p.Lys1728Asn)
 dbSNP
2g.166198711C=CA1304929095SCN1A-AS1,SCN9Ac.5928G= (p.Lys1976=)
c.5772G= (p.Lys1924=)
c.5895G= (p.Lys1965=)
n.2305G=
n.432-928C=
c.5541G= (p.Lys1847=)
c.5184G= (p.Lys1728=)
2g.166198711C>GCA349051027SCN1A-AS1,SCN9Ac.5928G>C (p.Lys1976Asn)
c.5772G>C (p.Lys1924Asn)
c.5895G>C (p.Lys1965Asn)
n.2305G>C
n.432-928C>G
c.5541G>C (p.Lys1847Asn)
c.5184G>C (p.Lys1728Asn)
 gnomAD v4
2g.166198711C>TCA59782658SCN1A-AS1,SCN9Ac.5928G>A (p.Lys1976=)
c.5772G>A (p.Lys1924=)
c.5895G>A (p.Lys1965=)
n.2305G>A
n.432-928C>T
c.5541G>A (p.Lys1847=)
c.5184G>A (p.Lys1728=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198712T>ACA349051029SCN1A-AS1,SCN9Ac.5927A>T (p.Lys1976Met)
c.5771A>T (p.Lys1924Met)
c.5894A>T (p.Lys1965Met)
n.2304A>T
n.432-927T>A
c.5540A>T (p.Lys1847Met)
c.5183A>T (p.Lys1728Met)
2g.166198712T>CCA349051031SCN1A-AS1,SCN9Ac.5927A>G (p.Lys1976Arg)
c.5771A>G (p.Lys1924Arg)
c.5894A>G (p.Lys1965Arg)
n.2304A>G
n.432-927T>C
c.5540A>G (p.Lys1847Arg)
c.5183A>G (p.Lys1728Arg)
2g.166198712T>GCA349051033SCN1A-AS1,SCN9Ac.5927A>C (p.Lys1976Thr)
c.5771A>C (p.Lys1924Thr)
c.5894A>C (p.Lys1965Thr)
n.2304A>C
n.432-927T>G
c.5540A>C (p.Lys1847Thr)
c.5183A>C (p.Lys1728Thr)
2g.166198713T>ACA349051034SCN1A-AS1,SCN9Ac.5926A>T (p.Lys1976Ter)
c.5770A>T (p.Lys1924Ter)
c.5893A>T (p.Lys1965Ter)
n.2303A>T
n.432-926T>A
c.5539A>T (p.Lys1847Ter)
c.5182A>T (p.Lys1728Ter)
 dbSNP
2g.166198713T>CCA16610253SCN1A-AS1,SCN9Ac.5926A>G (p.Lys1976Glu)
c.5770A>G (p.Lys1924Glu)
c.5893A>G (p.Lys1965Glu)
n.2303A>G
n.432-926T>C
c.5539A>G (p.Lys1847Glu)
c.5182A>G (p.Lys1728Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198713T>GCA349051038SCN1A-AS1,SCN9Ac.5926A>C (p.Lys1976Gln)
c.5770A>C (p.Lys1924Gln)
c.5893A>C (p.Lys1965Gln)
n.2303A>C
n.432-926T>G
c.5539A>C (p.Lys1847Gln)
c.5182A>C (p.Lys1728Gln)
2g.166198713T=CA1304929096SCN1A-AS1,SCN9Ac.5926A= (p.Lys1976=)
c.5770A= (p.Lys1924=)
c.5893A= (p.Lys1965=)
n.2303A=
n.432-926T=
c.5539A= (p.Lys1847=)
c.5182A= (p.Lys1728=)
2g.166198714T>ACA349051039SCN1A-AS1,SCN9Ac.5925A>T (p.Glu1975Asp)
c.5769A>T (p.Glu1923Asp)
c.5892A>T (p.Glu1964Asp)
n.2302A>T
n.432-925T>A
c.5538A>T (p.Glu1846Asp)
c.5181A>T (p.Glu1727Asp)
2g.166198714T>CCA429977481SCN1A-AS1,SCN9Ac.5925A>G (p.Glu1975=)
c.5769A>G (p.Glu1923=)
c.5892A>G (p.Glu1964=)
n.2302A>G
n.432-925T>C
c.5538A>G (p.Glu1846=)
c.5181A>G (p.Glu1727=)
 dbSNP
2g.166198714T>GCA349051040SCN1A-AS1,SCN9Ac.5925A>C (p.Glu1975Asp)
c.5769A>C (p.Glu1923Asp)
c.5892A>C (p.Glu1964Asp)
n.2302A>C
n.432-925T>G
c.5538A>C (p.Glu1846Asp)
c.5181A>C (p.Glu1727Asp)
2g.166198714T=CA1304929097SCN1A-AS1,SCN9Ac.5925A= (p.Glu1975=)
c.5769A= (p.Glu1923=)
c.5892A= (p.Glu1964=)
n.2302A=
n.432-925T=
c.5538A= (p.Glu1846=)
c.5181A= (p.Glu1727=)
2g.166198715T>ACA349051043SCN1A-AS1,SCN9Ac.5924A>T (p.Glu1975Val)
c.5768A>T (p.Glu1923Val)
c.5891A>T (p.Glu1964Val)
n.2301A>T
n.432-924T>A
c.5537A>T (p.Glu1846Val)
c.5180A>T (p.Glu1727Val)
2g.166198715T>CCA349051045SCN1A-AS1,SCN9Ac.5924A>G (p.Glu1975Gly)
c.5768A>G (p.Glu1923Gly)
c.5891A>G (p.Glu1964Gly)
n.2301A>G
n.432-924T>C
c.5537A>G (p.Glu1846Gly)
c.5180A>G (p.Glu1727Gly)
2g.166198715T>GCA349051044SCN1A-AS1,SCN9Ac.5924A>C (p.Glu1975Ala)
c.5768A>C (p.Glu1923Ala)
c.5891A>C (p.Glu1964Ala)
n.2301A>C
n.432-924T>G
c.5537A>C (p.Glu1846Ala)
c.5180A>C (p.Glu1727Ala)
2g.166198716C>ACA349051047SCN1A-AS1,SCN9Ac.5923G>T (p.Glu1975Ter)
c.5767G>T (p.Glu1923Ter)
c.5890G>T (p.Glu1964Ter)
n.2300G>T
n.432-923C>A
c.5536G>T (p.Glu1846Ter)
c.5179G>T (p.Glu1727Ter)
2g.166198716C=CA1304929098SCN1A-AS1,SCN9Ac.5923G= (p.Glu1975=)
c.5767G= (p.Glu1923=)
c.5890G= (p.Glu1964=)
n.2300G=
n.432-923C=
c.5536G= (p.Glu1846=)
c.5179G= (p.Glu1727=)
2g.166198716C>GCA349051048SCN1A-AS1,SCN9Ac.5923G>C (p.Glu1975Gln)
c.5767G>C (p.Glu1923Gln)
c.5890G>C (p.Glu1964Gln)
n.2300G>C
n.432-923C>G
c.5536G>C (p.Glu1846Gln)
c.5179G>C (p.Glu1727Gln)
 ClinVar dbSNP
2g.166198716C>TCA349051050SCN1A-AS1,SCN9Ac.5923G>A (p.Glu1975Lys)
c.5767G>A (p.Glu1923Lys)
c.5890G>A (p.Glu1964Lys)
n.2300G>A
n.432-923C>T
c.5536G>A (p.Glu1846Lys)
c.5179G>A (p.Glu1727Lys)
2g.166198717T>ACA429977489SCN1A-AS1,SCN9Ac.5922A>T (p.Thr1974=)
c.5766A>T (p.Thr1922=)
c.5889A>T (p.Thr1963=)
n.2299A>T
n.432-922T>A
c.5535A>T (p.Thr1845=)
c.5178A>T (p.Thr1726=)
2g.166198717T>CCA429977493SCN1A-AS1,SCN9Ac.5922A>G (p.Thr1974=)
c.5766A>G (p.Thr1922=)
c.5889A>G (p.Thr1963=)
n.2299A>G
n.432-922T>C
c.5535A>G (p.Thr1845=)
c.5178A>G (p.Thr1726=)
2g.166198717T>GCA59782670SCN1A-AS1,SCN9Ac.5922A>C (p.Thr1974=)
c.5766A>C (p.Thr1922=)
c.5889A>C (p.Thr1963=)
n.2299A>C
n.432-922T>G
c.5535A>C (p.Thr1845=)
c.5178A>C (p.Thr1726=)
 dbSNP
2g.166198717T=CA1304929099SCN1A-AS1,SCN9Ac.5922A= (p.Thr1974=)
c.5766A= (p.Thr1922=)
c.5889A= (p.Thr1963=)
n.2299A=
n.432-922T=
c.5535A= (p.Thr1845=)
c.5178A= (p.Thr1726=)
2g.166198718G>ACA349051053SCN1A-AS1,SCN9Ac.5921C>T (p.Thr1974Ile)
c.5765C>T (p.Thr1922Ile)
c.5888C>T (p.Thr1963Ile)
n.2298C>T
n.432-921G>A
c.5534C>T (p.Thr1845Ile)
c.5177C>T (p.Thr1726Ile)
 ClinVar dbSNP gnomAD v4
2g.166198718G>CCA349051054SCN1A-AS1,SCN9Ac.5921C>G (p.Thr1974Arg)
c.5765C>G (p.Thr1922Arg)
c.5888C>G (p.Thr1963Arg)
n.2298C>G
n.432-921G>C
c.5534C>G (p.Thr1845Arg)
c.5177C>G (p.Thr1726Arg)
2g.166198718G=CA1304929100SCN1A-AS1,SCN9Ac.5921C= (p.Thr1974=)
c.5765C= (p.Thr1922=)
c.5888C= (p.Thr1963=)
n.2298C=
n.432-921G=
c.5534C= (p.Thr1845=)
c.5177C= (p.Thr1726=)
2g.166198718G>TCA349051055SCN1A-AS1,SCN9Ac.5921C>A (p.Thr1974Lys)
c.5765C>A (p.Thr1922Lys)
c.5888C>A (p.Thr1963Lys)
n.2298C>A
n.432-921G>T
c.5534C>A (p.Thr1845Lys)
c.5177C>A (p.Thr1726Lys)
2g.166198719T>ACA349051058SCN1A-AS1,SCN9Ac.5920A>T (p.Thr1974Ser)
c.5764A>T (p.Thr1922Ser)
c.5887A>T (p.Thr1963Ser)
n.2297A>T
n.432-920T>A
c.5533A>T (p.Thr1845Ser)
c.5176A>T (p.Thr1726Ser)
2g.166198719T>CCA349051060SCN1A-AS1,SCN9Ac.5920A>G (p.Thr1974Ala)
c.5764A>G (p.Thr1922Ala)
c.5887A>G (p.Thr1963Ala)
n.2297A>G
n.432-920T>C
c.5533A>G (p.Thr1845Ala)
c.5176A>G (p.Thr1726Ala)
2g.166198719T>GCA349051061SCN1A-AS1,SCN9Ac.5920A>C (p.Thr1974Pro)
c.5764A>C (p.Thr1922Pro)
c.5887A>C (p.Thr1963Pro)
n.2297A>C
n.432-920T>G
c.5533A>C (p.Thr1845Pro)
c.5176A>C (p.Thr1726Pro)
 gnomAD v4
2g.166198720T>ACA349051063SCN1A-AS1,SCN9Ac.5919A>T (p.Arg1973Ser)
c.5763A>T (p.Arg1921Ser)
c.5886A>T (p.Arg1962Ser)
n.2296A>T
n.432-919T>A
c.5532A>T (p.Arg1844Ser)
c.5175A>T (p.Arg1725Ser)
2g.166198720T>CCA429977500SCN1A-AS1,SCN9Ac.5919A>G (p.Arg1973=)
c.5763A>G (p.Arg1921=)
c.5886A>G (p.Arg1962=)
n.2296A>G
n.432-919T>C
c.5532A>G (p.Arg1844=)
c.5175A>G (p.Arg1725=)
2g.166198720T>GCA349051065SCN1A-AS1,SCN9Ac.5919A>C (p.Arg1973Ser)
c.5763A>C (p.Arg1921Ser)
c.5886A>C (p.Arg1962Ser)
n.2296A>C
n.432-919T>G
c.5532A>C (p.Arg1844Ser)
c.5175A>C (p.Arg1725Ser)
2g.166198721C>ACA1943597SCN1A-AS1,SCN9Ac.5918G>T (p.Arg1973Ile)
c.5762G>T (p.Arg1921Ile)
c.5885G>T (p.Arg1962Ile)
n.2295G>T
n.432-918C>A
c.5531G>T (p.Arg1844Ile)
c.5174G>T (p.Arg1725Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198721C=CA1304929101SCN1A-AS1,SCN9Ac.5918G= (p.Arg1973=)
c.5762G= (p.Arg1921=)
c.5885G= (p.Arg1962=)
n.2295G=
n.432-918C=
c.5531G= (p.Arg1844=)
c.5174G= (p.Arg1725=)
2g.166198721C>GCA349051069SCN1A-AS1,SCN9Ac.5918G>C (p.Arg1973Thr)
c.5762G>C (p.Arg1921Thr)
c.5885G>C (p.Arg1962Thr)
n.2295G>C
n.432-918C>G
c.5531G>C (p.Arg1844Thr)
c.5174G>C (p.Arg1725Thr)
 ClinVar dbSNP gnomAD v4
2g.166198721C>TCA349051067SCN1A-AS1,SCN9Ac.5918G>A (p.Arg1973Lys)
c.5762G>A (p.Arg1921Lys)
c.5885G>A (p.Arg1962Lys)
n.2295G>A
n.432-918C>T
c.5531G>A (p.Arg1844Lys)
c.5174G>A (p.Arg1725Lys)
2g.166198722T>ACA349051072SCN1A-AS1,SCN9Ac.5917A>T (p.Arg1973Ter)
c.5761A>T (p.Arg1921Ter)
c.5884A>T (p.Arg1962Ter)
n.2294A>T
n.432-917T>A
c.5530A>T (p.Arg1844Ter)
c.5173A>T (p.Arg1725Ter)
 dbSNP
2g.166198722T>CCA349051074SCN1A-AS1,SCN9Ac.5917A>G (p.Arg1973Gly)
c.5761A>G (p.Arg1921Gly)
c.5884A>G (p.Arg1962Gly)
n.2294A>G
n.432-917T>C
c.5530A>G (p.Arg1844Gly)
c.5173A>G (p.Arg1725Gly)
 ClinVar dbSNP gnomAD v4
2g.166198722T>GCA429977506SCN1A-AS1,SCN9Ac.5917A>C (p.Arg1973=)
c.5761A>C (p.Arg1921=)
c.5884A>C (p.Arg1962=)
n.2294A>C
n.432-917T>G
c.5530A>C (p.Arg1844=)
c.5173A>C (p.Arg1725=)
2g.166198722T=CA1304929102SCN1A-AS1,SCN9Ac.5917A= (p.Arg1973=)
c.5761A= (p.Arg1921=)
c.5884A= (p.Arg1962=)
n.2294A=
n.432-917T=
c.5530A= (p.Arg1844=)
c.5173A= (p.Arg1725=)
2g.166198723G>ACA429977508SCN1A-AS1,SCN9Ac.5916C>T (p.Asp1972=)
c.5760C>T (p.Asp1920=)
c.5883C>T (p.Asp1961=)
n.2293C>T
n.432-916G>A
c.5529C>T (p.Asp1843=)
c.5172C>T (p.Asp1724=)
 ClinVar dbSNP gnomAD v4
2g.166198723G>CCA349051076SCN1A-AS1,SCN9Ac.5916C>G (p.Asp1972Glu)
c.5760C>G (p.Asp1920Glu)
c.5883C>G (p.Asp1961Glu)
n.2293C>G
n.432-916G>C
c.5529C>G (p.Asp1843Glu)
c.5172C>G (p.Asp1724Glu)
2g.166198723G=CA1304929103SCN1A-AS1,SCN9Ac.5916C= (p.Asp1972=)
c.5760C= (p.Asp1920=)
c.5883C= (p.Asp1961=)
n.2293C=
n.432-916G=
c.5529C= (p.Asp1843=)
c.5172C= (p.Asp1724=)
2g.166198723G>TCA349051078SCN1A-AS1,SCN9Ac.5916C>A (p.Asp1972Glu)
c.5760C>A (p.Asp1920Glu)
c.5883C>A (p.Asp1961Glu)
n.2293C>A
n.432-916G>T
c.5529C>A (p.Asp1843Glu)
c.5172C>A (p.Asp1724Glu)
2g.166198724T>ACA349051080SCN1A-AS1,SCN9Ac.5915A>T (p.Asp1972Val)
c.5759A>T (p.Asp1920Val)
c.5882A>T (p.Asp1961Val)
n.2292A>T
n.432-915T>A
c.5528A>T (p.Asp1843Val)
c.5171A>T (p.Asp1724Val)
2g.166198724T>CCA349051082SCN1A-AS1,SCN9Ac.5915A>G (p.Asp1972Gly)
c.5759A>G (p.Asp1920Gly)
c.5882A>G (p.Asp1961Gly)
n.2292A>G
n.432-915T>C
c.5528A>G (p.Asp1843Gly)
c.5171A>G (p.Asp1724Gly)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166198724T>GCA349051084SCN1A-AS1,SCN9Ac.5915A>C (p.Asp1972Ala)
c.5759A>C (p.Asp1920Ala)
c.5882A>C (p.Asp1961Ala)
n.2292A>C
n.432-915T>G
c.5528A>C (p.Asp1843Ala)
c.5171A>C (p.Asp1724Ala)
2g.166198725C>ACA349051086SCN1A-AS1,SCN9Ac.5914G>T (p.Asp1972Tyr)
c.5758G>T (p.Asp1920Tyr)
c.5881G>T (p.Asp1961Tyr)
n.2291G>T
n.432-914C>A
c.5527G>T (p.Asp1843Tyr)
c.5170G>T (p.Asp1724Tyr)
2g.166198725C=CA1304929104SCN1A-AS1,SCN9Ac.5914G= (p.Asp1972=)
c.5758G= (p.Asp1920=)
c.5881G= (p.Asp1961=)
n.2291G=
n.432-914C=
c.5527G= (p.Asp1843=)
c.5170G= (p.Asp1724=)
2g.166198725C>GCA349051088SCN1A-AS1,SCN9Ac.5914G>C (p.Asp1972His)
c.5758G>C (p.Asp1920His)
c.5881G>C (p.Asp1961His)
n.2291G>C
n.432-914C>G
c.5527G>C (p.Asp1843His)
c.5170G>C (p.Asp1724His)
2g.166198725C>TCA349051090SCN1A-AS1,SCN9Ac.5914G>A (p.Asp1972Asn)
c.5758G>A (p.Asp1920Asn)
c.5881G>A (p.Asp1961Asn)
n.2291G>A
n.432-914C>T
c.5527G>A (p.Asp1843Asn)
c.5170G>A (p.Asp1724Asn)
 ClinVar dbSNP
2g.166198726T>ACA349051092SCN1A-AS1,SCN9Ac.5913A>T (p.Gln1971His)
c.5757A>T (p.Gln1919His)
c.5880A>T (p.Gln1960His)
n.2290A>T
n.432-913T>A
c.5526A>T (p.Gln1842His)
c.5169A>T (p.Gln1723His)
2g.166198726T>CCA429977513SCN1A-AS1,SCN9Ac.5913A>G (p.Gln1971=)
c.5757A>G (p.Gln1919=)
c.5880A>G (p.Gln1960=)
n.2290A>G
n.432-913T>C
c.5526A>G (p.Gln1842=)
c.5169A>G (p.Gln1723=)
2g.166198726T>GCA349051094SCN1A-AS1,SCN9Ac.5913A>C (p.Gln1971His)
c.5757A>C (p.Gln1919His)
c.5880A>C (p.Gln1960His)
n.2290A>C
n.432-913T>G
c.5526A>C (p.Gln1842His)
c.5169A>C (p.Gln1723His)
2g.166198727T>ACA349051099SCN1A-AS1,SCN9Ac.5912A>T (p.Gln1971Leu)
c.5756A>T (p.Gln1919Leu)
c.5879A>T (p.Gln1960Leu)
n.2289A>T
n.432-912T>A
c.5525A>T (p.Gln1842Leu)
c.5168A>T (p.Gln1723Leu)
2g.166198727T>CCA349051097SCN1A-AS1,SCN9Ac.5912A>G (p.Gln1971Arg)
c.5756A>G (p.Gln1919Arg)
c.5879A>G (p.Gln1960Arg)
n.2289A>G
n.432-912T>C
c.5525A>G (p.Gln1842Arg)
c.5168A>G (p.Gln1723Arg)
2g.166198727T>GCA349051095SCN1A-AS1,SCN9Ac.5912A>C (p.Gln1971Pro)
c.5756A>C (p.Gln1919Pro)
c.5879A>C (p.Gln1960Pro)
n.2289A>C
n.432-912T>G
c.5525A>C (p.Gln1842Pro)
c.5168A>C (p.Gln1723Pro)
2g.166198728G>ACA349051101SCN1A-AS1,SCN9Ac.5911C>T (p.Gln1971Ter)
c.5755C>T (p.Gln1919Ter)
c.5878C>T (p.Gln1960Ter)
n.2288C>T
n.432-911G>A
c.5524C>T (p.Gln1842Ter)
c.5167C>T (p.Gln1723Ter)
 dbSNP
2g.166198728G>CCA349051103SCN1A-AS1,SCN9Ac.5911C>G (p.Gln1971Glu)
c.5755C>G (p.Gln1919Glu)
c.5878C>G (p.Gln1960Glu)
n.2288C>G
n.432-911G>C
c.5524C>G (p.Gln1842Glu)
c.5167C>G (p.Gln1723Glu)
 dbSNP gnomAD v4
2g.166198728G=CA1304929105SCN1A-AS1,SCN9Ac.5911C= (p.Gln1971=)
c.5755C= (p.Gln1919=)
c.5878C= (p.Gln1960=)
n.2288C=
n.432-911G=
c.5524C= (p.Gln1842=)
c.5167C= (p.Gln1723=)
2g.166198728G>TCA349051105SCN1A-AS1,SCN9Ac.5911C>A (p.Gln1971Lys)
c.5755C>A (p.Gln1919Lys)
c.5878C>A (p.Gln1960Lys)
n.2288C>A
n.432-911G>T
c.5524C>A (p.Gln1842Lys)
c.5167C>A (p.Gln1723Lys)
2g.166198729T>ACA349051107SCN1A-AS1,SCN9Ac.5910A>T (p.Glu1970Asp)
c.5754A>T (p.Glu1918Asp)
c.5877A>T (p.Glu1959Asp)
n.2287A>T
n.432-910T>A
c.5523A>T (p.Glu1841Asp)
c.5166A>T (p.Glu1722Asp)
 ClinVar dbSNP
2g.166198729T>CCA429977520SCN1A-AS1,SCN9Ac.5910A>G (p.Glu1970=)
c.5754A>G (p.Glu1918=)
c.5877A>G (p.Glu1959=)
n.2287A>G
n.432-910T>C
c.5523A>G (p.Glu1841=)
c.5166A>G (p.Glu1722=)
2g.166198729T>GCA349051108SCN1A-AS1,SCN9Ac.5910A>C (p.Glu1970Asp)
c.5754A>C (p.Glu1918Asp)
c.5877A>C (p.Glu1959Asp)
n.2287A>C
n.432-910T>G
c.5523A>C (p.Glu1841Asp)
c.5166A>C (p.Glu1722Asp)
2g.166198730T>ACA349051114SCN1A-AS1,SCN9Ac.5909A>T (p.Glu1970Val)
c.5753A>T (p.Glu1918Val)
c.5876A>T (p.Glu1959Val)
n.2286A>T
n.432-909T>A
c.5522A>T (p.Glu1841Val)
c.5165A>T (p.Glu1722Val)
2g.166198730T>CCA349051112SCN1A-AS1,SCN9Ac.5909A>G (p.Glu1970Gly)
c.5753A>G (p.Glu1918Gly)
c.5876A>G (p.Glu1959Gly)
n.2286A>G
n.432-909T>C
c.5522A>G (p.Glu1841Gly)
c.5165A>G (p.Glu1722Gly)
2g.166198730T>GCA349051111SCN1A-AS1,SCN9Ac.5909A>C (p.Glu1970Ala)
c.5753A>C (p.Glu1918Ala)
c.5876A>C (p.Glu1959Ala)
n.2286A>C
n.432-909T>G
c.5522A>C (p.Glu1841Ala)
c.5165A>C (p.Glu1722Ala)
2g.166198731C>ACA349051115SCN1A-AS1,SCN9Ac.5908G>T (p.Glu1970Ter)
c.5752G>T (p.Glu1918Ter)
c.5875G>T (p.Glu1959Ter)
n.2285G>T
n.432-908C>A
c.5521G>T (p.Glu1841Ter)
c.5164G>T (p.Glu1722Ter)
 dbSNP
2g.166198731C=CA1304929106SCN1A-AS1,SCN9Ac.5908G= (p.Glu1970=)
c.5752G= (p.Glu1918=)
c.5875G= (p.Glu1959=)
n.2285G=
n.432-908C=
c.5521G= (p.Glu1841=)
c.5164G= (p.Glu1722=)
2g.166198731C>GCA349051117SCN1A-AS1,SCN9Ac.5908G>C (p.Glu1970Gln)
c.5752G>C (p.Glu1918Gln)
c.5875G>C (p.Glu1959Gln)
n.2285G>C
n.432-908C>G
c.5521G>C (p.Glu1841Gln)
c.5164G>C (p.Glu1722Gln)
2g.166198731C>TCA349051119SCN1A-AS1,SCN9Ac.5908G>A (p.Glu1970Lys)
c.5752G>A (p.Glu1918Lys)
c.5875G>A (p.Glu1959Lys)
n.2285G>A
n.432-908C>T
c.5521G>A (p.Glu1841Lys)
c.5164G>A (p.Glu1722Lys)
 COSMIC COSMIC
2g.166198732A=CA1304929107SCN1A-AS1,SCN9Ac.5907T= (p.Tyr1969=)
c.5751T= (p.Tyr1917=)
c.5874T= (p.Tyr1958=)
n.2284T=
n.432-907A=
c.5520T= (p.Tyr1840=)
c.5163T= (p.Tyr1721=)
2g.166198732A>CCA349051120SCN1A-AS1,SCN9Ac.5907T>G (p.Tyr1969Ter)
c.5751T>G (p.Tyr1917Ter)
c.5874T>G (p.Tyr1958Ter)
n.2284T>G
n.432-907A>C
c.5520T>G (p.Tyr1840Ter)
c.5163T>G (p.Tyr1721Ter)
2g.166198732A>GCA1943598SCN1A-AS1,SCN9Ac.5907T>C (p.Tyr1969=)
c.5751T>C (p.Tyr1917=)
c.5874T>C (p.Tyr1958=)
n.2284T>C
n.432-907A>G
c.5520T>C (p.Tyr1840=)
c.5163T>C (p.Tyr1721=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198732A>TCA349051122SCN1A-AS1,SCN9Ac.5907T>A (p.Tyr1969Ter)
c.5751T>A (p.Tyr1917Ter)
c.5874T>A (p.Tyr1958Ter)
n.2284T>A
n.432-907A>T
c.5520T>A (p.Tyr1840Ter)
c.5163T>A (p.Tyr1721Ter)
2g.166198733T>ACA349051124SCN1A-AS1,SCN9Ac.5906A>T (p.Tyr1969Phe)
c.5750A>T (p.Tyr1917Phe)
c.5873A>T (p.Tyr1958Phe)
n.2283A>T
n.432-906T>A
c.5519A>T (p.Tyr1840Phe)
c.5162A>T (p.Tyr1721Phe)
2g.166198733T>CCA1943599SCN1A-AS1,SCN9Ac.5906A>G (p.Tyr1969Cys)
c.5750A>G (p.Tyr1917Cys)
c.5873A>G (p.Tyr1958Cys)
n.2283A>G
n.432-906T>C
c.5519A>G (p.Tyr1840Cys)
c.5162A>G (p.Tyr1721Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198733T>GCA349051126SCN1A-AS1,SCN9Ac.5906A>C (p.Tyr1969Ser)
c.5750A>C (p.Tyr1917Ser)
c.5873A>C (p.Tyr1958Ser)
n.2283A>C
n.432-906T>G
c.5519A>C (p.Tyr1840Ser)
c.5162A>C (p.Tyr1721Ser)
2g.166198733T=CA1304929108SCN1A-AS1,SCN9Ac.5906A= (p.Tyr1969=)
c.5750A= (p.Tyr1917=)
c.5873A= (p.Tyr1958=)
n.2283A=
n.432-906T=
c.5519A= (p.Tyr1840=)
c.5162A= (p.Tyr1721=)
2g.166198734_166198736dupCA915941081SCN1A-AS1,SCN9Ac.5904_5906dup (p.Tyr1969Ter)
c.5748_5750dup (p.Tyr1917Ter)
c.5871_5873dup (p.Tyr1958Ter)
n.2281_2283dup
n.432-905_432-903dup
c.5517_5519dup (p.Tyr1840Ter)
c.5160_5162dup (p.Tyr1721Ter)
 ClinVar dbSNP
2g.166198734A=CA1304929109SCN1A-AS1,SCN9Ac.5905T= (p.Tyr1969=)
c.5749T= (p.Tyr1917=)
c.5872T= (p.Tyr1958=)
n.2282T=
n.432-905A=
c.5518T= (p.Tyr1840=)
c.5161T= (p.Tyr1721=)
2g.166198734A>CCA349051129SCN1A-AS1,SCN9Ac.5905T>G (p.Tyr1969Asp)
c.5749T>G (p.Tyr1917Asp)
c.5872T>G (p.Tyr1958Asp)
n.2282T>G
n.432-905A>C
c.5518T>G (p.Tyr1840Asp)
c.5161T>G (p.Tyr1721Asp)
2g.166198734A>GCA349051131SCN1A-AS1,SCN9Ac.5905T>C (p.Tyr1969His)
c.5749T>C (p.Tyr1917His)
c.5872T>C (p.Tyr1958His)
n.2282T>C
n.432-905A>G
c.5518T>C (p.Tyr1840His)
c.5161T>C (p.Tyr1721His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198734A>TCA349051132SCN1A-AS1,SCN9Ac.5905T>A (p.Tyr1969Asn)
c.5749T>A (p.Tyr1917Asn)
c.5872T>A (p.Tyr1958Asn)
n.2282T>A
n.432-905A>T
c.5518T>A (p.Tyr1840Asn)
c.5161T>A (p.Tyr1721Asn)
2g.166198735T>ACA349051134SCN1A-AS1,SCN9Ac.5904A>T (p.Lys1968Asn)
c.5748A>T (p.Lys1916Asn)
c.5871A>T (p.Lys1957Asn)
n.2281A>T
n.432-904T>A
c.5517A>T (p.Lys1839Asn)
c.5160A>T (p.Lys1720Asn)
2g.166198735T>CCA429977528SCN1A-AS1,SCN9Ac.5904A>G (p.Lys1968=)
c.5748A>G (p.Lys1916=)
c.5871A>G (p.Lys1957=)
n.2281A>G
n.432-904T>C
c.5517A>G (p.Lys1839=)
c.5160A>G (p.Lys1720=)
2g.166198735T>GCA349051136SCN1A-AS1,SCN9Ac.5904A>C (p.Lys1968Asn)
c.5748A>C (p.Lys1916Asn)
c.5871A>C (p.Lys1957Asn)
n.2281A>C
n.432-904T>G
c.5517A>C (p.Lys1839Asn)
c.5160A>C (p.Lys1720Asn)
2g.166198736T>ACA349051137SCN1A-AS1,SCN9Ac.5903A>T (p.Lys1968Ile)
c.5747A>T (p.Lys1916Ile)
c.5870A>T (p.Lys1957Ile)
n.2280A>T
n.432-903T>A
c.5516A>T (p.Lys1839Ile)
c.5159A>T (p.Lys1720Ile)
2g.166198736T>CCA349051138SCN1A-AS1,SCN9Ac.5903A>G (p.Lys1968Arg)
c.5747A>G (p.Lys1916Arg)
c.5870A>G (p.Lys1957Arg)
n.2280A>G
n.432-903T>C
c.5516A>G (p.Lys1839Arg)
c.5159A>G (p.Lys1720Arg)
2g.166198736T>GCA349051140SCN1A-AS1,SCN9Ac.5903A>C (p.Lys1968Thr)
c.5747A>C (p.Lys1916Thr)
c.5870A>C (p.Lys1957Thr)
n.2280A>C
n.432-903T>G
c.5516A>C (p.Lys1839Thr)
c.5159A>C (p.Lys1720Thr)
2g.166198737T>ACA349051141SCN1A-AS1,SCN9Ac.5902A>T (p.Lys1968Ter)
c.5746A>T (p.Lys1916Ter)
c.5869A>T (p.Lys1957Ter)
n.2279A>T
n.432-902T>A
c.5515A>T (p.Lys1839Ter)
c.5158A>T (p.Lys1720Ter)
 dbSNP
2g.166198737T>CCA349051143SCN1A-AS1,SCN9Ac.5902A>G (p.Lys1968Glu)
c.5746A>G (p.Lys1916Glu)
c.5869A>G (p.Lys1957Glu)
n.2279A>G
n.432-902T>C
c.5515A>G (p.Lys1839Glu)
c.5158A>G (p.Lys1720Glu)
2g.166198737T>GCA349051144SCN1A-AS1,SCN9Ac.5902A>C (p.Lys1968Gln)
c.5746A>C (p.Lys1916Gln)
c.5869A>C (p.Lys1957Gln)
n.2279A>C
n.432-902T>G
c.5515A>C (p.Lys1839Gln)
c.5158A>C (p.Lys1720Gln)
2g.166198737T=CA1304929110SCN1A-AS1,SCN9Ac.5902A= (p.Lys1968=)
c.5746A= (p.Lys1916=)
c.5869A= (p.Lys1957=)
n.2279A=
n.432-902T=
c.5515A= (p.Lys1839=)
c.5158A= (p.Lys1720=)
2g.166198738C>ACA349051146SCN1A-AS1,SCN9Ac.5901G>T (p.Glu1967Asp)
c.5745G>T (p.Glu1915Asp)
c.5868G>T (p.Glu1956Asp)
n.2278G>T
n.432-901C>A
c.5514G>T (p.Glu1838Asp)
c.5157G>T (p.Glu1719Asp)
 COSMIC COSMIC
2g.166198738C=CA1304929111SCN1A-AS1,SCN9Ac.5901G= (p.Glu1967=)
c.5745G= (p.Glu1915=)
c.5868G= (p.Glu1956=)
n.2278G=
n.432-901C=
c.5514G= (p.Glu1838=)
c.5157G= (p.Glu1719=)
2g.166198738C>GCA349051148SCN1A-AS1,SCN9Ac.5901G>C (p.Glu1967Asp)
c.5745G>C (p.Glu1915Asp)
c.5868G>C (p.Glu1956Asp)
n.2278G>C
n.432-901C>G
c.5514G>C (p.Glu1838Asp)
c.5157G>C (p.Glu1719Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198738C>TCA429977529SCN1A-AS1,SCN9Ac.5901G>A (p.Glu1967=)
c.5745G>A (p.Glu1915=)
c.5868G>A (p.Glu1956=)
n.2278G>A
n.432-901C>T
c.5514G>A (p.Glu1838=)
c.5157G>A (p.Glu1719=)
 gnomAD v4
2g.166198739T>ACA349051149SCN1A-AS1,SCN9Ac.5900A>T (p.Glu1967Val)
c.5744A>T (p.Glu1915Val)
c.5867A>T (p.Glu1956Val)
n.2277A>T
n.432-900T>A
c.5513A>T (p.Glu1838Val)
c.5156A>T (p.Glu1719Val)
2g.166198739T>CCA349051151SCN1A-AS1,SCN9Ac.5900A>G (p.Glu1967Gly)
c.5744A>G (p.Glu1915Gly)
c.5867A>G (p.Glu1956Gly)
n.2277A>G
n.432-900T>C
c.5513A>G (p.Glu1838Gly)
c.5156A>G (p.Glu1719Gly)
2g.166198739T>GCA349051153SCN1A-AS1,SCN9Ac.5900A>C (p.Glu1967Ala)
c.5744A>C (p.Glu1915Ala)
c.5867A>C (p.Glu1956Ala)
n.2277A>C
n.432-900T>G
c.5513A>C (p.Glu1838Ala)
c.5156A>C (p.Glu1719Ala)
2g.166198740_166198743dupCA16610254SCN1A-AS1,SCN9Ac.5897_5900dup (p.Lys1968ArgfsTer4)
c.5741_5744dup (p.Lys1916ArgfsTer4)
c.5864_5867dup (p.Lys1957ArgfsTer4)
n.2274_2277dup
n.432-899_432-896dup
c.5510_5513dup (p.Lys1839ArgfsTer4)
c.5153_5156dup (p.Lys1720ArgfsTer4)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198740C>ACA349051156SCN1A-AS1,SCN9Ac.5899G>T (p.Glu1967Ter)
c.5743G>T (p.Glu1915Ter)
c.5866G>T (p.Glu1956Ter)
n.2276G>T
n.432-899C>A
c.5512G>T (p.Glu1838Ter)
c.5155G>T (p.Glu1719Ter)
 ClinVar dbSNP
2g.166198740C=CA1304929112SCN1A-AS1,SCN9Ac.5899G= (p.Glu1967=)
c.5743G= (p.Glu1915=)
c.5866G= (p.Glu1956=)
n.2276G=
n.432-899C=
c.5512G= (p.Glu1838=)
c.5155G= (p.Glu1719=)
2g.166198740C>GCA349051157SCN1A-AS1,SCN9Ac.5899G>C (p.Glu1967Gln)
c.5743G>C (p.Glu1915Gln)
c.5866G>C (p.Glu1956Gln)
n.2276G>C
n.432-899C>G
c.5512G>C (p.Glu1838Gln)
c.5155G>C (p.Glu1719Gln)
2g.166198740C>TCA349051159SCN1A-AS1,SCN9Ac.5899G>A (p.Glu1967Lys)
c.5743G>A (p.Glu1915Lys)
c.5866G>A (p.Glu1956Lys)
n.2276G>A
n.432-899C>T
c.5512G>A (p.Glu1838Lys)
c.5155G>A (p.Glu1719Lys)
2g.166198741T>ACA349051161SCN1A-AS1,SCN9Ac.5898A>T (p.Lys1966Asn)
c.5742A>T (p.Lys1914Asn)
c.5865A>T (p.Lys1955Asn)
n.2275A>T
n.432-898T>A
c.5511A>T (p.Lys1837Asn)
c.5154A>T (p.Lys1718Asn)
2g.166198741T>CCA429977532SCN1A-AS1,SCN9Ac.5898A>G (p.Lys1966=)
c.5742A>G (p.Lys1914=)
c.5865A>G (p.Lys1955=)
n.2275A>G
n.432-898T>C
c.5511A>G (p.Lys1837=)
c.5154A>G (p.Lys1718=)
2g.166198741T>GCA349051162SCN1A-AS1,SCN9Ac.5898A>C (p.Lys1966Asn)
c.5742A>C (p.Lys1914Asn)
c.5865A>C (p.Lys1955Asn)
n.2275A>C
n.432-898T>G
c.5511A>C (p.Lys1837Asn)
c.5154A>C (p.Lys1718Asn)
 dbSNP
2g.166198741T=CA1304929113SCN1A-AS1,SCN9Ac.5898A= (p.Lys1966=)
c.5742A= (p.Lys1914=)
c.5865A= (p.Lys1955=)
n.2275A=
n.432-898T=
c.5511A= (p.Lys1837=)
c.5154A= (p.Lys1718=)
2g.166198743dupCA2661764169SCN1A-AS1,SCN9Ac.5898dup (p.Glu1967ArgfsTer4)
c.5742dup (p.Glu1915ArgfsTer4)
c.5865dup (p.Glu1956ArgfsTer4)
n.2275dup
n.432-896dup
c.5511dup (p.Glu1838ArgfsTer4)
c.5154dup (p.Glu1719ArgfsTer4)
 gnomAD v4
2g.166198742_166198745dupCA59782678SCN1A-AS1,SCN9Ac.5895_5898dup (p.Glu1967GlnfsTer5)
c.5739_5742dup (p.Glu1915GlnfsTer5)
c.5862_5865dup (p.Glu1956GlnfsTer5)
n.2272_2275dup
n.432-897_432-894dup
c.5508_5511dup (p.Glu1838GlnfsTer5)
c.5151_5154dup (p.Glu1719GlnfsTer5)
 dbSNP gnomAD v3 gnomAD v4
2g.166198742T>ACA349051165SCN1A-AS1,SCN9Ac.5897A>T (p.Lys1966Ile)
c.5741A>T (p.Lys1914Ile)
c.5864A>T (p.Lys1955Ile)
n.2274A>T
n.432-897T>A
c.5510A>T (p.Lys1837Ile)
c.5153A>T (p.Lys1718Ile)
2g.166198742T>CCA349051167SCN1A-AS1,SCN9Ac.5897A>G (p.Lys1966Arg)
c.5741A>G (p.Lys1914Arg)
c.5864A>G (p.Lys1955Arg)
n.2274A>G
n.432-897T>C
c.5510A>G (p.Lys1837Arg)
c.5153A>G (p.Lys1718Arg)
2g.166198742T>GCA349051168SCN1A-AS1,SCN9Ac.5897A>C (p.Lys1966Thr)
c.5741A>C (p.Lys1914Thr)
c.5864A>C (p.Lys1955Thr)
n.2274A>C
n.432-897T>G
c.5510A>C (p.Lys1837Thr)
c.5153A>C (p.Lys1718Thr)
2g.166198743T>ACA349051170SCN1A-AS1,SCN9Ac.5896A>T (p.Lys1966Ter)
c.5740A>T (p.Lys1914Ter)
c.5863A>T (p.Lys1955Ter)
n.2273A>T
n.432-896T>A
c.5509A>T (p.Lys1837Ter)
c.5152A>T (p.Lys1718Ter)
2g.166198743T>CCA349051172SCN1A-AS1,SCN9Ac.5896A>G (p.Lys1966Glu)
c.5740A>G (p.Lys1914Glu)
c.5863A>G (p.Lys1955Glu)
n.2273A>G
n.432-896T>C
c.5509A>G (p.Lys1837Glu)
c.5152A>G (p.Lys1718Glu)
2g.166198743T>GCA349051174SCN1A-AS1,SCN9Ac.5896A>C (p.Lys1966Gln)
c.5740A>C (p.Lys1914Gln)
c.5863A>C (p.Lys1955Gln)
n.2273A>C
n.432-896T>G
c.5509A>C (p.Lys1837Gln)
c.5152A>C (p.Lys1718Gln)
2g.166198745_166198748delCA2661764170SCN1A-AS1,SCN9Ac.5893_5896del (p.Asp1965LysfsTer?)
c.5737_5740del (p.Asp1913LysfsTer?)
c.5860_5863del (p.Asp1954LysfsTer?)
n.2270_2273del
n.432-894_432-891del
c.5506_5509del (p.Asp1836LysfsTer?)
c.5149_5152del (p.Asp1717LysfsTer?)
 gnomAD v4
2g.166198744G>ACA429977539SCN1A-AS1,SCN9Ac.5895C>T (p.Asp1965=)
c.5739C>T (p.Asp1913=)
c.5862C>T (p.Asp1954=)
n.2272C>T
n.432-895G>A
c.5508C>T (p.Asp1836=)
c.5151C>T (p.Asp1717=)
2g.166198744G>CCA349051175SCN1A-AS1,SCN9Ac.5895C>G (p.Asp1965Glu)
c.5739C>G (p.Asp1913Glu)
c.5862C>G (p.Asp1954Glu)
n.2272C>G
n.432-895G>C
c.5508C>G (p.Asp1836Glu)
c.5151C>G (p.Asp1717Glu)
2g.166198744G=CA1304929114SCN1A-AS1,SCN9Ac.5895C= (p.Asp1965=)
c.5739C= (p.Asp1913=)
c.5862C= (p.Asp1954=)
n.2272C=
n.432-895G=
c.5508C= (p.Asp1836=)
c.5151C= (p.Asp1717=)
2g.166198744G>TCA1943600SCN1A-AS1,SCN9Ac.5895C>A (p.Asp1965Glu)
c.5739C>A (p.Asp1913Glu)
c.5862C>A (p.Asp1954Glu)
n.2272C>A
n.432-895G>T
c.5508C>A (p.Asp1836Glu)
c.5151C>A (p.Asp1717Glu)
 dbSNP ExAC gnomAD v2
2g.166198745T>ACA349051177SCN1A-AS1,SCN9Ac.5894A>T (p.Asp1965Val)
c.5738A>T (p.Asp1913Val)
c.5861A>T (p.Asp1954Val)
n.2271A>T
n.432-894T>A
c.5507A>T (p.Asp1836Val)
c.5150A>T (p.Asp1717Val)
 ClinVar gnomAD v4
2g.166198745T>CCA349051179SCN1A-AS1,SCN9Ac.5894A>G (p.Asp1965Gly)
c.5738A>G (p.Asp1913Gly)
c.5861A>G (p.Asp1954Gly)
n.2271A>G
n.432-894T>C
c.5507A>G (p.Asp1836Gly)
c.5150A>G (p.Asp1717Gly)
 gnomAD v4
2g.166198745T>GCA349051181SCN1A-AS1,SCN9Ac.5894A>C (p.Asp1965Ala)
c.5738A>C (p.Asp1913Ala)
c.5861A>C (p.Asp1954Ala)
n.2271A>C
n.432-894T>G
c.5507A>C (p.Asp1836Ala)
c.5150A>C (p.Asp1717Ala)
2g.166198746C>ACA349051183SCN1A-AS1,SCN9Ac.5893G>T (p.Asp1965Tyr)
c.5737G>T (p.Asp1913Tyr)
c.5860G>T (p.Asp1954Tyr)
n.2270G>T
n.432-893C>A
c.5506G>T (p.Asp1836Tyr)
c.5149G>T (p.Asp1717Tyr)
 gnomAD v4
2g.166198746C>GCA349051185SCN1A-AS1,SCN9Ac.5893G>C (p.Asp1965His)
c.5737G>C (p.Asp1913His)
c.5860G>C (p.Asp1954His)
n.2270G>C
n.432-893C>G
c.5506G>C (p.Asp1836His)
c.5149G>C (p.Asp1717His)
 gnomAD v4
2g.166198746C>TCA349051187SCN1A-AS1,SCN9Ac.5893G>A (p.Asp1965Asn)
c.5737G>A (p.Asp1913Asn)
c.5860G>A (p.Asp1954Asn)
n.2270G>A
n.432-893C>T
c.5506G>A (p.Asp1836Asn)
c.5149G>A (p.Asp1717Asn)
2g.166198747T>ACA429977546SCN1A-AS1,SCN9Ac.5892A>T (p.Pro1964=)
c.5736A>T (p.Pro1912=)
c.5859A>T (p.Pro1953=)
n.2269A>T
n.432-892T>A
c.5505A>T (p.Pro1835=)
c.5148A>T (p.Pro1716=)
2g.166198747T>CCA429977544SCN1A-AS1,SCN9Ac.5892A>G (p.Pro1964=)
c.5736A>G (p.Pro1912=)
c.5859A>G (p.Pro1953=)
n.2269A>G
n.432-892T>C
c.5505A>G (p.Pro1835=)
c.5148A>G (p.Pro1716=)
2g.166198747T>GCA429977545SCN1A-AS1,SCN9Ac.5892A>C (p.Pro1964=)
c.5736A>C (p.Pro1912=)
c.5859A>C (p.Pro1953=)
n.2269A>C
n.432-892T>G
c.5505A>C (p.Pro1835=)
c.5148A>C (p.Pro1716=)
2g.166198748G>ACA349051193SCN1A-AS1,SCN9Ac.5891C>T (p.Pro1964Leu)
c.5735C>T (p.Pro1912Leu)
c.5858C>T (p.Pro1953Leu)
n.2268C>T
n.432-891G>A
c.5504C>T (p.Pro1835Leu)
c.5147C>T (p.Pro1716Leu)
 ClinVar gnomAD v4
2g.166198748G>CCA349051189SCN1A-AS1,SCN9Ac.5891C>G (p.Pro1964Arg)
c.5735C>G (p.Pro1912Arg)
c.5858C>G (p.Pro1953Arg)
n.2268C>G
n.432-891G>C
c.5504C>G (p.Pro1835Arg)
c.5147C>G (p.Pro1716Arg)
2g.166198748G>TCA349051191SCN1A-AS1,SCN9Ac.5891C>A (p.Pro1964Gln)
c.5735C>A (p.Pro1912Gln)
c.5858C>A (p.Pro1953Gln)
n.2268C>A
n.432-891G>T
c.5504C>A (p.Pro1835Gln)
c.5147C>A (p.Pro1716Gln)
2g.166198749G>ACA349051195SCN1A-AS1,SCN9Ac.5890C>T (p.Pro1964Ser)
c.5734C>T (p.Pro1912Ser)
c.5857C>T (p.Pro1953Ser)
n.2267C>T
n.432-890G>A
c.5503C>T (p.Pro1835Ser)
c.5146C>T (p.Pro1716Ser)
2g.166198749G>CCA349051211SCN1A-AS1,SCN9Ac.5890C>G (p.Pro1964Ala)
c.5734C>G (p.Pro1912Ala)
c.5857C>G (p.Pro1953Ala)
n.2267C>G
n.432-890G>C
c.5503C>G (p.Pro1835Ala)
c.5146C>G (p.Pro1716Ala)
2g.166198749G>TCA349051213SCN1A-AS1,SCN9Ac.5890C>A (p.Pro1964Thr)
c.5734C>A (p.Pro1912Thr)
c.5857C>A (p.Pro1953Thr)
n.2267C>A
n.432-890G>T
c.5503C>A (p.Pro1835Thr)
c.5146C>A (p.Pro1716Thr)
 gnomAD v4
2g.166198750C>ACA349051218SCN1A-AS1,SCN9Ac.5889G>T (p.Lys1963Asn)
c.5733G>T (p.Lys1911Asn)
c.5856G>T (p.Lys1952Asn)
n.2266G>T
n.432-889C>A
c.5502G>T (p.Lys1834Asn)
c.5145G>T (p.Lys1715Asn)
2g.166198750C>GCA349051220SCN1A-AS1,SCN9Ac.5889G>C (p.Lys1963Asn)
c.5733G>C (p.Lys1911Asn)
c.5856G>C (p.Lys1952Asn)
n.2266G>C
n.432-889C>G
c.5502G>C (p.Lys1834Asn)
c.5145G>C (p.Lys1715Asn)
2g.166198750C>TCA429977550SCN1A-AS1,SCN9Ac.5889G>A (p.Lys1963=)
c.5733G>A (p.Lys1911=)
c.5856G>A (p.Lys1952=)
n.2266G>A
n.432-889C>T
c.5502G>A (p.Lys1834=)
c.5145G>A (p.Lys1715=)
 gnomAD v4
2g.166198751T>ACA349051224SCN1A-AS1,SCN9Ac.5888A>T (p.Lys1963Met)
c.5732A>T (p.Lys1911Met)
c.5855A>T (p.Lys1952Met)
n.2265A>T
n.432-888T>A
c.5501A>T (p.Lys1834Met)
c.5144A>T (p.Lys1715Met)
2g.166198751T>CCA349051222SCN1A-AS1,SCN9Ac.5888A>G (p.Lys1963Arg)
c.5732A>G (p.Lys1911Arg)
c.5855A>G (p.Lys1952Arg)
n.2265A>G
n.432-888T>C
c.5501A>G (p.Lys1834Arg)
c.5144A>G (p.Lys1715Arg)
2g.166198751T>GCA349051223SCN1A-AS1,SCN9Ac.5888A>C (p.Lys1963Thr)
c.5732A>C (p.Lys1911Thr)
c.5855A>C (p.Lys1952Thr)
n.2265A>C
n.432-888T>G
c.5501A>C (p.Lys1834Thr)
c.5144A>C (p.Lys1715Thr)
2g.166198752T>ACA349051227SCN1A-AS1,SCN9Ac.5887A>T (p.Lys1963Ter)
c.5731A>T (p.Lys1911Ter)
c.5854A>T (p.Lys1952Ter)
n.2264A>T
n.432-887T>A
c.5500A>T (p.Lys1834Ter)
c.5143A>T (p.Lys1715Ter)
 dbSNP
2g.166198752T>CCA349051228SCN1A-AS1,SCN9Ac.5887A>G (p.Lys1963Glu)
c.5731A>G (p.Lys1911Glu)
c.5854A>G (p.Lys1952Glu)
n.2264A>G
n.432-887T>C
c.5500A>G (p.Lys1834Glu)
c.5143A>G (p.Lys1715Glu)
2g.166198752T>GCA349051230SCN1A-AS1,SCN9Ac.5887A>C (p.Lys1963Gln)
c.5731A>C (p.Lys1911Gln)
c.5854A>C (p.Lys1952Gln)
n.2264A>C
n.432-887T>G
c.5500A>C (p.Lys1834Gln)
c.5143A>C (p.Lys1715Gln)
2g.166198752T=CA1304929115SCN1A-AS1,SCN9Ac.5887A= (p.Lys1963=)
c.5731A= (p.Lys1911=)
c.5854A= (p.Lys1952=)
n.2264A=
n.432-887T=
c.5500A= (p.Lys1834=)
c.5143A= (p.Lys1715=)
2g.166198753T>ACA429977557SCN1A-AS1,SCN9Ac.5886A>T (p.Thr1962=)
c.5730A>T (p.Thr1910=)
c.5853A>T (p.Thr1951=)
n.2263A>T
n.432-886T>A
c.5499A>T (p.Thr1833=)
c.5142A>T (p.Thr1714=)
2g.166198753T>CCA429977556SCN1A-AS1,SCN9Ac.5886A>G (p.Thr1962=)
c.5730A>G (p.Thr1910=)
c.5853A>G (p.Thr1951=)
n.2263A>G
n.432-886T>C
c.5499A>G (p.Thr1833=)
c.5142A>G (p.Thr1714=)
2g.166198753T>GCA429977558SCN1A-AS1,SCN9Ac.5886A>C (p.Thr1962=)
c.5730A>C (p.Thr1910=)
c.5853A>C (p.Thr1951=)
n.2263A>C
n.432-886T>G
c.5499A>C (p.Thr1833=)
c.5142A>C (p.Thr1714=)
2g.166198754G>ACA349051231SCN1A-AS1,SCN9Ac.5885C>T (p.Thr1962Ile)
c.5729C>T (p.Thr1910Ile)
c.5852C>T (p.Thr1951Ile)
n.2262C>T
n.432-885G>A
c.5498C>T (p.Thr1833Ile)
c.5141C>T (p.Thr1714Ile)
2g.166198754G>CCA349051232SCN1A-AS1,SCN9Ac.5885C>G (p.Thr1962Arg)
c.5729C>G (p.Thr1910Arg)
c.5852C>G (p.Thr1951Arg)
n.2262C>G
n.432-885G>C
c.5498C>G (p.Thr1833Arg)
c.5141C>G (p.Thr1714Arg)
2g.166198754G>TCA349051233SCN1A-AS1,SCN9Ac.5885C>A (p.Thr1962Lys)
c.5729C>A (p.Thr1910Lys)
c.5852C>A (p.Thr1951Lys)
n.2262C>A
n.432-885G>T
c.5498C>A (p.Thr1833Lys)
c.5141C>A (p.Thr1714Lys)
2g.166198755T>ACA349051238SCN1A-AS1,SCN9Ac.5884A>T (p.Thr1962Ser)
c.5728A>T (p.Thr1910Ser)
c.5851A>T (p.Thr1951Ser)
n.2261A>T
n.432-884T>A
c.5497A>T (p.Thr1833Ser)
c.5140A>T (p.Thr1714Ser)
2g.166198755T>CCA349051237SCN1A-AS1,SCN9Ac.5884A>G (p.Thr1962Ala)
c.5728A>G (p.Thr1910Ala)
c.5851A>G (p.Thr1951Ala)
n.2261A>G
n.432-884T>C
c.5497A>G (p.Thr1833Ala)
c.5140A>G (p.Thr1714Ala)
2g.166198755T>GCA349051235SCN1A-AS1,SCN9Ac.5884A>C (p.Thr1962Pro)
c.5728A>C (p.Thr1910Pro)
c.5851A>C (p.Thr1951Pro)
n.2261A>C
n.432-884T>G
c.5497A>C (p.Thr1833Pro)
c.5140A>C (p.Thr1714Pro)
2g.166198756T>ACA429977561SCN1A-AS1,SCN9Ac.5883A>T (p.Val1961=)
c.5727A>T (p.Val1909=)
c.5850A>T (p.Val1950=)
n.2260A>T
n.432-883T>A
c.5496A>T (p.Val1832=)
c.5139A>T (p.Val1713=)
2g.166198756T>CCA429977562SCN1A-AS1,SCN9Ac.5883A>G (p.Val1961=)
c.5727A>G (p.Val1909=)
c.5850A>G (p.Val1950=)
n.2260A>G
n.432-883T>C
c.5496A>G (p.Val1832=)
c.5139A>G (p.Val1713=)
 ClinVar dbSNP
2g.166198756T>GCA429977563SCN1A-AS1,SCN9Ac.5883A>C (p.Val1961=)
c.5727A>C (p.Val1909=)
c.5850A>C (p.Val1950=)
n.2260A>C
n.432-883T>G
c.5496A>C (p.Val1832=)
c.5139A>C (p.Val1713=)
2g.166198756T=CA1304929116SCN1A-AS1,SCN9Ac.5883A= (p.Val1961=)
c.5727A= (p.Val1909=)
c.5850A= (p.Val1950=)
n.2260A=
n.432-883T=
c.5496A= (p.Val1832=)
c.5139A= (p.Val1713=)
2g.166198757A>CCA349051240SCN1A-AS1,SCN9Ac.5882T>G (p.Val1961Gly)
c.5726T>G (p.Val1909Gly)
c.5849T>G (p.Val1950Gly)
n.2259T>G
n.432-882A>C
c.5495T>G (p.Val1832Gly)
c.5138T>G (p.Val1713Gly)
2g.166198757A>GCA349051242SCN1A-AS1,SCN9Ac.5882T>C (p.Val1961Ala)
c.5726T>C (p.Val1909Ala)
c.5849T>C (p.Val1950Ala)
n.2259T>C
n.432-882A>G
c.5495T>C (p.Val1832Ala)
c.5138T>C (p.Val1713Ala)
 gnomAD v4
2g.166198757A>TCA349051243SCN1A-AS1,SCN9Ac.5882T>A (p.Val1961Glu)
c.5726T>A (p.Val1909Glu)
c.5849T>A (p.Val1950Glu)
n.2259T>A
n.432-882A>T
c.5495T>A (p.Val1832Glu)
c.5138T>A (p.Val1713Glu)
2g.166198758C>ACA349051246SCN1A-AS1,SCN9Ac.5881G>T (p.Val1961Leu)
c.5725G>T (p.Val1909Leu)
c.5848G>T (p.Val1950Leu)
n.2258G>T
n.432-881C>A
c.5494G>T (p.Val1832Leu)
c.5137G>T (p.Val1713Leu)
2g.166198758C=CA1304929117SCN1A-AS1,SCN9Ac.5881G= (p.Val1961=)
c.5725G= (p.Val1909=)
c.5848G= (p.Val1950=)
n.2258G=
n.432-881C=
c.5494G= (p.Val1832=)
c.5137G= (p.Val1713=)
2g.166198758C>GCA349051247SCN1A-AS1,SCN9Ac.5881G>C (p.Val1961Leu)
c.5725G>C (p.Val1909Leu)
c.5848G>C (p.Val1950Leu)
n.2258G>C
n.432-881C>G
c.5494G>C (p.Val1832Leu)
c.5137G>C (p.Val1713Leu)
2g.166198758C>TCA349051249SCN1A-AS1,SCN9Ac.5881G>A (p.Val1961Ile)
c.5725G>A (p.Val1909Ile)
c.5848G>A (p.Val1950Ile)
n.2258G>A
n.432-881C>T
c.5494G>A (p.Val1832Ile)
c.5137G>A (p.Val1713Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.166198759A=CA1304929118SCN1A-AS1,SCN9Ac.5880T= (p.Ser1960=)
c.5724T= (p.Ser1908=)
c.5847T= (p.Ser1949=)
n.2257T=
n.432-880A=
c.5493T= (p.Ser1831=)
c.5136T= (p.Ser1712=)
2g.166198759A>CCA349051251SCN1A-AS1,SCN9Ac.5880T>G (p.Ser1960Arg)
c.5724T>G (p.Ser1908Arg)
c.5847T>G (p.Ser1949Arg)
n.2257T>G
n.432-880A>C
c.5493T>G (p.Ser1831Arg)
c.5136T>G (p.Ser1712Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166198759A>GCA1943601SCN1A-AS1,SCN9Ac.5880T>C (p.Ser1960=)
c.5724T>C (p.Ser1908=)
c.5847T>C (p.Ser1949=)
n.2257T>C
n.432-880A>G
c.5493T>C (p.Ser1831=)
c.5136T>C (p.Ser1712=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198759A>TCA349051252SCN1A-AS1,SCN9Ac.5880T>A (p.Ser1960Arg)
c.5724T>A (p.Ser1908Arg)
c.5847T>A (p.Ser1949Arg)
n.2257T>A
n.432-880A>T
c.5493T>A (p.Ser1831Arg)
c.5136T>A (p.Ser1712Arg)
2g.166198760delCA2753030573SCN1A-AS1,SCN9Ac.5879del (p.Ser1960MetfsTer2)
c.5723del (p.Ser1908MetfsTer2)
c.5846del (p.Ser1949MetfsTer2)
n.2256del
n.432-879del
c.5492del (p.Ser1831MetfsTer2)
c.5135del (p.Ser1712MetfsTer2)
2g.166198760C>ACA349051256SCN1A-AS1,SCN9Ac.5879G>T (p.Ser1960Ile)
c.5723G>T (p.Ser1908Ile)
c.5846G>T (p.Ser1949Ile)
n.2256G>T
n.432-879C>A
c.5492G>T (p.Ser1831Ile)
c.5135G>T (p.Ser1712Ile)
2g.166198760C>GCA349051257SCN1A-AS1,SCN9Ac.5879G>C (p.Ser1960Thr)
c.5723G>C (p.Ser1908Thr)
c.5846G>C (p.Ser1949Thr)
n.2256G>C
n.432-879C>G
c.5492G>C (p.Ser1831Thr)
c.5135G>C (p.Ser1712Thr)
2g.166198760C>TCA349051259SCN1A-AS1,SCN9Ac.5879G>A (p.Ser1960Asn)
c.5723G>A (p.Ser1908Asn)
c.5846G>A (p.Ser1949Asn)
n.2256G>A
n.432-879C>T
c.5492G>A (p.Ser1831Asn)
c.5135G>A (p.Ser1712Asn)
 gnomAD v4
2g.166198761T>ACA349051261SCN1A-AS1,SCN9Ac.5878A>T (p.Ser1960Cys)
c.5722A>T (p.Ser1908Cys)
c.5845A>T (p.Ser1949Cys)
n.2255A>T
n.432-878T>A
c.5491A>T (p.Ser1831Cys)
c.5134A>T (p.Ser1712Cys)
2g.166198761T>CCA349051262SCN1A-AS1,SCN9Ac.5878A>G (p.Ser1960Gly)
c.5722A>G (p.Ser1908Gly)
c.5845A>G (p.Ser1949Gly)
n.2255A>G
n.432-878T>C
c.5491A>G (p.Ser1831Gly)
c.5134A>G (p.Ser1712Gly)
2g.166198761T>GCA349051264SCN1A-AS1,SCN9Ac.5878A>C (p.Ser1960Arg)
c.5722A>C (p.Ser1908Arg)
c.5845A>C (p.Ser1949Arg)
n.2255A>C
n.432-878T>G
c.5491A>C (p.Ser1831Arg)
c.5134A>C (p.Ser1712Arg)
2g.166198761T=CA1304929119SCN1A-AS1,SCN9Ac.5878A= (p.Ser1960=)
c.5722A= (p.Ser1908=)
c.5845A= (p.Ser1949=)
n.2255A=
n.432-878T=
c.5491A= (p.Ser1831=)
c.5134A= (p.Ser1712=)
2g.166198762A=CA1304929120SCN1A-AS1,SCN9Ac.5877T= (p.Asp1959=)
c.5721T= (p.Asp1907=)
c.5844T= (p.Asp1948=)
n.2254T=
n.432-877A=
c.5490T= (p.Asp1830=)
c.5133T= (p.Asp1711=)
2g.166198762A>CCA349051266SCN1A-AS1,SCN9Ac.5877T>G (p.Asp1959Glu)
c.5721T>G (p.Asp1907Glu)
c.5844T>G (p.Asp1948Glu)
n.2254T>G
n.432-877A>C
c.5490T>G (p.Asp1830Glu)
c.5133T>G (p.Asp1711Glu)
2g.166198762A>GCA429977571SCN1A-AS1,SCN9Ac.5877T>C (p.Asp1959=)
c.5721T>C (p.Asp1907=)
c.5844T>C (p.Asp1948=)
n.2254T>C
n.432-877A>G
c.5490T>C (p.Asp1830=)
c.5133T>C (p.Asp1711=)
 dbSNP gnomAD v2 gnomAD v4
2g.166198762A>TCA349051268SCN1A-AS1,SCN9Ac.5877T>A (p.Asp1959Glu)
c.5721T>A (p.Asp1907Glu)
c.5844T>A (p.Asp1948Glu)
n.2254T>A
n.432-877A>T
c.5490T>A (p.Asp1830Glu)
c.5133T>A (p.Asp1711Glu)
2g.166198762dupCA760166319SCN1A-AS1,SCN9Ac.5877dup (p.Ser1960Ter)
c.5721dup (p.Ser1908Ter)
c.5844dup (p.Ser1949Ter)
n.2254dup
n.432-877dup
c.5490dup (p.Ser1831Ter)
c.5133dup (p.Ser1712Ter)
 dbSNP
2g.166198762_166198765dupCA1304929121SCN1A-AS1,SCN9Ac.5874_5877dup (p.Ser1960Ter)
c.5718_5721dup (p.Ser1908Ter)
c.5841_5844dup (p.Ser1949Ter)
n.2251_2254dup
n.432-877_432-874dup
c.5487_5490dup (p.Ser1831Ter)
c.5130_5133dup (p.Ser1712Ter)
 ClinVar dbSNP gnomAD v4
2g.166198763T>ACA349051270SCN1A-AS1,SCN9Ac.5876A>T (p.Asp1959Val)
c.5720A>T (p.Asp1907Val)
c.5843A>T (p.Asp1948Val)
n.2253A>T
n.432-876T>A
c.5489A>T (p.Asp1830Val)
c.5132A>T (p.Asp1711Val)
2g.166198763T>CCA349051271SCN1A-AS1,SCN9Ac.5876A>G (p.Asp1959Gly)
c.5720A>G (p.Asp1907Gly)
c.5843A>G (p.Asp1948Gly)
n.2253A>G
n.432-876T>C
c.5489A>G (p.Asp1830Gly)
c.5132A>G (p.Asp1711Gly)
 gnomAD v4
2g.166198763T>GCA16610170SCN1A-AS1,SCN9Ac.5876A>C (p.Asp1959Ala)
c.5720A>C (p.Asp1907Ala)
c.5843A>C (p.Asp1948Ala)
n.2253A>C
n.432-876T>G
c.5489A>C (p.Asp1830Ala)
c.5132A>C (p.Asp1711Ala)
 ClinVar dbSNP
2g.166198763T=CA1304929122SCN1A-AS1,SCN9Ac.5876A= (p.Asp1959=)
c.5720A= (p.Asp1907=)
c.5843A= (p.Asp1948=)
n.2253A=
n.432-876T=
c.5489A= (p.Asp1830=)
c.5132A= (p.Asp1711=)
2g.166198764C>ACA349051275SCN1A-AS1,SCN9Ac.5875G>T (p.Asp1959Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5842G>T (p.Asp1948Tyr)
n.2252G>T
n.432-875C>A
c.5488G>T (p.Asp1830Tyr)
c.5131G>T (p.Asp1711Tyr)
2g.166198764C>GCA349051278SCN1A-AS1,SCN9Ac.5875G>C (p.Asp1959His)
c.5719G>C (p.Asp1907His)
c.5842G>C (p.Asp1948His)
n.2252G>C
n.432-875C>G
c.5488G>C (p.Asp1830His)
c.5131G>C (p.Asp1711His)
2g.166198764C>TCA349051277SCN1A-AS1,SCN9Ac.5875G>A (p.Asp1959Asn)
c.5719G>A (p.Asp1907Asn)
c.5842G>A (p.Asp1948Asn)
n.2252G>A
n.432-875C>T
c.5488G>A (p.Asp1830Asn)
c.5131G>A (p.Asp1711Asn)
 COSMIC COSMIC
2g.166198764_166198766delinsCATCA1304929123SCN1A-AS1,SCN9Ac.5873_5875delinsATG (p.Tyr1958=)
c.5717_5719delinsATG (p.Tyr1906=)
c.5840_5842delinsATG (p.Tyr1947=)
n.2250_2252delinsATG
n.432-875_432-873delinsCAT
c.5486_5488delinsATG (p.Tyr1829=)
c.5129_5131delinsATG (p.Tyr1710=)
2g.166198765A>CCA349051281SCN1A-AS1,SCN9Ac.5874T>G (p.Tyr1958Ter)
c.5718T>G (p.Tyr1906Ter)
c.5841T>G (p.Tyr1947Ter)
n.2251T>G
n.432-874A>C
c.5487T>G (p.Tyr1829Ter)
c.5130T>G (p.Tyr1710Ter)
2g.166198765A>GCA429977577SCN1A-AS1,SCN9Ac.5874T>C (p.Tyr1958=)
c.5718T>C (p.Tyr1906=)
c.5841T>C (p.Tyr1947=)
n.2251T>C
n.432-874A>G
c.5487T>C (p.Tyr1829=)
c.5130T>C (p.Tyr1710=)
2g.166198765A>TCA349051283SCN1A-AS1,SCN9Ac.5874T>A (p.Tyr1958Ter)
c.5718T>A (p.Tyr1906Ter)
c.5841T>A (p.Tyr1947Ter)
n.2251T>A
n.432-874A>T
c.5487T>A (p.Tyr1829Ter)
c.5130T>A (p.Tyr1710Ter)
2g.166198767_166198768delCA1943602SCN1A-AS1,SCN9Ac.5873_5874del (p.Tyr1958Ter)
c.5717_5718del (p.Tyr1906Ter)
c.5840_5841del (p.Tyr1947Ter)
n.2250_2251del
n.432-872_432-871del
c.5486_5487del (p.Tyr1829Ter)
c.5129_5130del (p.Tyr1710Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198766T>ACA59782747SCN1A-AS1,SCN9Ac.5873A>T (p.Tyr1958Phe)
c.5717A>T (p.Tyr1906Phe)
c.5840A>T (p.Tyr1947Phe)
n.2250A>T
n.432-873T>A
c.5486A>T (p.Tyr1829Phe)
c.5129A>T (p.Tyr1710Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.166198766T>CCA349051286SCN1A-AS1,SCN9Ac.5873A>G (p.Tyr1958Cys)
c.5717A>G (p.Tyr1906Cys)
c.5840A>G (p.Tyr1947Cys)
n.2250A>G
n.432-873T>C
c.5486A>G (p.Tyr1829Cys)
c.5129A>G (p.Tyr1710Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198766T>GCA349051288SCN1A-AS1,SCN9Ac.5873A>C (p.Tyr1958Ser)
c.5717A>C (p.Tyr1906Ser)
c.5840A>C (p.Tyr1947Ser)
n.2250A>C
n.432-873T>G
c.5486A>C (p.Tyr1829Ser)
c.5129A>C (p.Tyr1710Ser)
2g.166198766T=CA1304929124SCN1A-AS1,SCN9Ac.5873A= (p.Tyr1958=)
c.5717A= (p.Tyr1906=)
c.5840A= (p.Tyr1947=)
n.2250A=
n.432-873T=
c.5486A= (p.Tyr1829=)
c.5129A= (p.Tyr1710=)
2g.166198767A=CA1304929125SCN1A-AS1,SCN9Ac.5872T= (p.Tyr1958=)
c.5716T= (p.Tyr1906=)
c.5839T= (p.Tyr1947=)
n.2249T=
n.432-872A=
c.5485T= (p.Tyr1829=)
c.5128T= (p.Tyr1710=)
2g.166198767A>CCA349051290SCN1A-AS1,SCN9Ac.5872T>G (p.Tyr1958Asp)
c.5716T>G (p.Tyr1906Asp)
c.5839T>G (p.Tyr1947Asp)
n.2249T>G
n.432-872A>C
c.5485T>G (p.Tyr1829Asp)
c.5128T>G (p.Tyr1710Asp)
2g.166198767A>GCA349051292SCN1A-AS1,SCN9Ac.5872T>C (p.Tyr1958His)
c.5716T>C (p.Tyr1906His)
c.5839T>C (p.Tyr1947His)
n.2249T>C
n.432-872A>G
c.5485T>C (p.Tyr1829His)
c.5128T>C (p.Tyr1710His)
 gnomAD v4
2g.166198767A>TCA1943603SCN1A-AS1,SCN9Ac.5872T>A (p.Tyr1958Asn)
c.5716T>A (p.Tyr1906Asn)
c.5839T>A (p.Tyr1947Asn)
n.2249T>A
n.432-872A>T
c.5485T>A (p.Tyr1829Asn)
c.5128T>A (p.Tyr1710Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198768T>ACA429977584SCN1A-AS1,SCN9Ac.5871A>T (p.Ser1957=)
c.5715A>T (p.Ser1905=)
c.5838A>T (p.Ser1946=)
n.2248A>T
n.432-871T>A
c.5484A>T (p.Ser1828=)
c.5127A>T (p.Ser1709=)
2g.166198768T>CCA429977581SCN1A-AS1,SCN9Ac.5871A>G (p.Ser1957=)
c.5715A>G (p.Ser1905=)
c.5838A>G (p.Ser1946=)
n.2248A>G
n.432-871T>C
c.5484A>G (p.Ser1828=)
c.5127A>G (p.Ser1709=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198768T>GCA429977582SCN1A-AS1,SCN9Ac.5871A>C (p.Ser1957=)
c.5715A>C (p.Ser1905=)
c.5838A>C (p.Ser1946=)
n.2248A>C
n.432-871T>G
c.5484A>C (p.Ser1828=)
c.5127A>C (p.Ser1709=)
 gnomAD v4
2g.166198768T=CA1304929126SCN1A-AS1,SCN9Ac.5871A= (p.Ser1957=)
c.5715A= (p.Ser1905=)
c.5838A= (p.Ser1946=)
n.2248A=
n.432-871T=
c.5484A= (p.Ser1828=)
c.5127A= (p.Ser1709=)
2g.166198769G>ACA349051295SCN1A-AS1,SCN9Ac.5870C>T (p.Ser1957Leu)
c.5714C>T (p.Ser1905Leu)
c.5837C>T (p.Ser1946Leu)
n.2247C>T
n.432-870G>A
c.5483C>T (p.Ser1828Leu)
c.5126C>T (p.Ser1709Leu)
2g.166198769G>CCA349051296SCN1A-AS1,SCN9Ac.5870C>G (p.Ser1957Ter)
c.5714C>G (p.Ser1905Ter)
c.5837C>G (p.Ser1946Ter)
n.2247C>G
n.432-870G>C
c.5483C>G (p.Ser1828Ter)
c.5126C>G (p.Ser1709Ter)
2g.166198769G>TCA349051298SCN1A-AS1,SCN9Ac.5870C>A (p.Ser1957Ter)
c.5714C>A (p.Ser1905Ter)
c.5837C>A (p.Ser1946Ter)
n.2247C>A
n.432-870G>T
c.5483C>A (p.Ser1828Ter)
c.5126C>A (p.Ser1709Ter)
 gnomAD v4
2g.166198770A=CA1304929127SCN1A-AS1,SCN9Ac.5869T= (p.Ser1957=)
c.5713T= (p.Ser1905=)
c.5836T= (p.Ser1946=)
n.2246T=
n.432-869A=
c.5482T= (p.Ser1828=)
c.5125T= (p.Ser1709=)
2g.166198770A>CCA349051300SCN1A-AS1,SCN9Ac.5869T>G (p.Ser1957Ala)
c.5713T>G (p.Ser1905Ala)
c.5836T>G (p.Ser1946Ala)
n.2246T>G
n.432-869A>C
c.5482T>G (p.Ser1828Ala)
c.5125T>G (p.Ser1709Ala)
2g.166198770A>GCA1943604SCN1A-AS1,SCN9Ac.5869T>C (p.Ser1957Pro)
c.5713T>C (p.Ser1905Pro)
c.5836T>C (p.Ser1946Pro)
n.2246T>C
n.432-869A>G
c.5482T>C (p.Ser1828Pro)
c.5125T>C (p.Ser1709Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198770A>TCA349051303SCN1A-AS1,SCN9Ac.5869T>A (p.Ser1957Thr)
c.5713T>A (p.Ser1905Thr)
c.5836T>A (p.Ser1946Thr)
n.2246T>A
n.432-869A>T
c.5482T>A (p.Ser1828Thr)
c.5125T>A (p.Ser1709Thr)
2g.166198771A=CA1304929128SCN1A-AS1,SCN9Ac.5868T= (p.Pro1956=)
c.5712T= (p.Pro1904=)
c.5835T= (p.Pro1945=)
n.2245T=
n.432-868A=
c.5481T= (p.Pro1827=)
c.5124T= (p.Pro1708=)
2g.166198771A>CCA429977586SCN1A-AS1,SCN9Ac.5868T>G (p.Pro1956=)
c.5712T>G (p.Pro1904=)
c.5835T>G (p.Pro1945=)
n.2245T>G
n.432-868A>C
c.5481T>G (p.Pro1827=)
c.5124T>G (p.Pro1708=)
2g.166198771A>GCA429977587SCN1A-AS1,SCN9Ac.5868T>C (p.Pro1956=)
c.5712T>C (p.Pro1904=)
c.5835T>C (p.Pro1945=)
n.2245T>C
n.432-868A>G
c.5481T>C (p.Pro1827=)
c.5124T>C (p.Pro1708=)
2g.166198771A>TCA429977590SCN1A-AS1,SCN9Ac.5868T>A (p.Pro1956=)
c.5712T>A (p.Pro1904=)
c.5835T>A (p.Pro1945=)
n.2245T>A
n.432-868A>T
c.5481T>A (p.Pro1827=)
c.5124T>A (p.Pro1708=)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched